A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
AbstractCooks syndrome (CS) is an ultrarare limb malformation due toin tandem microduplications involvingKCNJ2 and extending to the 5 ′ regulatory element ofSOX9. To date, six CS families were resolved at the molecular level. Subsequent studies explored the evolutionary and pathological complexities of theSOX9-KCNJ2/Sox9-Kcnj2 locus, and suggested a key role for the formation of novel topologically associating domain (TAD) by inter-TAD duplications in causing CS. Here, we report a unique case of CS associated with a de novo 1;17 translocation affecting theKCNJ2 locus. On chromosome 17, the breakpoint mapped betweenKC...
Source: Human Genetics - November 25, 2021 Category: Genetics & Stem Cells Source Type: research

Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings
AbstractStructural variation includes a change in copy number, orientation, or location of a part of the genome. Copy number variants (CNVs) are a common cause of genetic hearing loss, comprising nearly 20% of diagnosed cases. While large deletions involving the geneSTRC are the most common pathogenic CNVs, a significant proportion of known hearing loss genes also contain pathogenic CNVs. In this review, we provide an overview of currently used methods for detection of CNVs in genes known to cause hearing loss including molecular techniques such as multiplex ligation probe amplification (MLPA) and digital droplet polymeras...
Source: Human Genetics - November 22, 2021 Category: Genetics & Stem Cells Source Type: research

Genetic therapies for neurological disorders
AbstractIn recent years, it has become increasingly apparent that many neurological disorders are underpinned by a genetic aetiology. This has resulted in considerable efforts to develop therapeutic strategies which can treat the disease-causing mutation, either by supplying a functional copy of the mutated gene or editing the genomic sequence. In this review, we will discuss the main genetic strategies which are currently being explored for the treatment of monogenic neurological disorders, as well as some of the challenges they face. In addition, we will address some of the ethical difficulties which may arise. (Source: Human Genetics)
Source: Human Genetics - November 22, 2021 Category: Genetics & Stem Cells Source Type: research

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
AbstractThe uptake and efflux of solutes across a plasma membrane is controlled by transporters. There are two main superfamilies of transporters, adenosine 5 ′-triphosphate (ATP) binding cassettes (ABCs) and solute carriers (SLCs). In the brain, SLC transporters are involved in transporting various solutes across the blood–brain barrier, blood–cerebrospinal fluid barrier, astrocytes, neurons, and other brain cell types including oligodendrocytes an d microglial cells. SLCs play an important role in maintaining normal brain function. Hence, mutations in the genes that encode SLC transporters can cause a v...
Source: Human Genetics - November 19, 2021 Category: Genetics & Stem Cells Source Type: research

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
This study expands the landscape of pathogenicMMAB variants, provides association of in vitro and clinical responsiveness, and facilitates insight into MMAB function, enabling better disease understanding. (Source: Human Genetics)
Source: Human Genetics - November 18, 2021 Category: Genetics & Stem Cells Source Type: research

Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant
This report adds to the clinical delineation of MRT71, confirms loss of function ofALKBH8 as the disease mechanism and expands the repertoire of its molecular lesions. (Source: Human Genetics)
Source: Human Genetics - November 10, 2021 Category: Genetics & Stem Cells Source Type: research

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
AbstractPathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype –phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients withMYT1L-ass...
Source: Human Genetics - November 8, 2021 Category: Genetics & Stem Cells Source Type: research

Mitochondrial “dysmorphology” in variant classification
AbstractMitochondrial disorders are challenging to diagnose. Exome sequencing has greatly enhanced the diagnostic precision of these disorders although interpreting variants of uncertain significance (VUS) remains a formidable obstacle. Whether specific mitochondrial morphological changes can aid in the classification of these variants is unknown. Here, we describe two families (four patients), each with a VUS in a gene known to affect the morphology of mitochondria through a specific role in the fission –fusion balance. In the first, the missense variant inMFF, encoding a fission factor, was associated with impaired...
Source: Human Genetics - November 8, 2021 Category: Genetics & Stem Cells Source Type: research

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
AbstractPathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype –phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients withMYT1L-ass...
Source: Human Genetics - November 8, 2021 Category: Genetics & Stem Cells Source Type: research

Disease-associated human genetic variation through the lens of precursor and mature RNA structure
We present an analysis of Human Gene Mutation Database variants mapping to mRNAs and examine the distribution of causative disease-associated variation across the transcriptome. Although our analysis confirms the importance of post-transcriptional regulatory motifs, a majority of DAVs do not directly map to known regulatory motifs. Therefore, we review evidence that regions outside these well-characterized motifs can regulate function by RNA structure-mediated mechanisms in all four elements of an mRNA: exons, introns, 5 ′ and 3′ UTRs. To this end, we review published examples of riboSNitches, which are single-...
Source: Human Genetics - November 6, 2021 Category: Genetics & Stem Cells Source Type: research

Correction to: Detailed clinical features and genotype –phenotype correlation in an OTOF-related hearing loss cohort in Japan
(Source: Human Genetics)
Source: Human Genetics - November 2, 2021 Category: Genetics & Stem Cells Source Type: research

PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer
AbstractLong non-coding RNAs (lncRNAs) have been gaining importance in the field of cancer research in recent years.PRNCR1 (prostate cancer-associated non-coding RNA1) is a 12.7  kb, intron-less lncRNA found to play an oncogenic role in malignancy of diverse organs including prostate, breast, lung, oral cavity, colon and rectum. Single-nucleotide polymorphisms (SNPs) ofPRNCR1 locus have been found to be associated with cancer susceptibility in different populations. In this review, an attempt has been made for the first time to summarize all sorts of available data onPRNCR1 to date from relevant databases (GeneCard, L...
Source: Human Genetics - November 2, 2021 Category: Genetics & Stem Cells Source Type: research

Correction to: Detailed clinical features and genotype –phenotype correlation in an OTOF-related hearing loss cohort in Japan
(Source: Human Genetics)
Source: Human Genetics - November 2, 2021 Category: Genetics & Stem Cells Source Type: research

PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer
AbstractLong non-coding RNAs (lncRNAs) have been gaining importance in the field of cancer research in recent years.PRNCR1 (prostate cancer-associated non-coding RNA1) is a 12.7  kb, intron-less lncRNA found to play an oncogenic role in malignancy of diverse organs including prostate, breast, lung, oral cavity, colon and rectum. Single-nucleotide polymorphisms (SNPs) ofPRNCR1 locus have been found to be associated with cancer susceptibility in different populations. In this review, an attempt has been made for the first time to summarize all sorts of available data onPRNCR1 to date from relevant databases (GeneCard, L...
Source: Human Genetics - November 2, 2021 Category: Genetics & Stem Cells Source Type: research

Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys
In this study, we analyzed the genetic basis of three pubertal traits; namely, peak height velocity (PV), age at PV (APV) and height at APV (HAPV). We analyzed a cohort of 904 admixed Chilean children and adolescents with European and Mapuche Native American ancestries. Height was measured on roughly a\(6-\)month basis from childhood to adolescence between 2006 and 2019. We predict that, in average, HAPV is 4.3 cm higher in European than in Mapuche adolescents (P = 0.042), and APV is 0.73 years later in European compared with Mapuche adolescents (P = 0.023). Further, by performing a GWAS on 774,  433 single-nucleotide...
Source: Human Genetics - October 29, 2021 Category: Genetics & Stem Cells Source Type: research

Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys
(Source: Human Genetics)
Source: Human Genetics - October 29, 2021 Category: Genetics & Stem Cells Source Type: research

ASTL is mutated in female infertility
AbstractFemale infertility is a relatively common phenotype with a growing number of single gene causes although these account for only a minority of cases. Here, we report a consanguineous family in which adult females who are homozygous for a truncating variant inASTL display markedly reduced fertility in a pattern strikingly similar toAstl−/− female mice.ASTL encodes ovastacin, which is known to trigger zona pellucida hardening (ZPH) as part of the cortical reaction upon fertilization. ZPH is required for normal early embryonic development and its absence can be caused by pathogenic variants in other zona pe...
Source: Human Genetics - October 26, 2021 Category: Genetics & Stem Cells Source Type: research

A review of migraine genetics: gathering genomic and transcriptomic factors
AbstractMigraine is a common and complex neurologic disorder that affects approximately 15 –18% of the general population. Although the cause of migraine is unknown, some genetic studies have focused on unravelling rare and common variants underlying the pathophysiological mechanisms of this disorder. This review covers the advances in the last decade on migraine genetics, throughout th e history of genetic methodologies used, including recent application of next-generation sequencing techniques. A thorough review of the literature interweaves the genomic and transcriptomic factors that will allow a better understand...
Source: Human Genetics - October 22, 2021 Category: Genetics & Stem Cells Source Type: research

Interpretable machine learning for genomics
This article is a gentle and critical introduction to iML, with an emphasis on genomic applications. I define relevant concepts, motivate leading methodologies, and provide a simple typology of existing approaches. I survey recent examples of iML in genomics, demonstrating how such techniques are increasingly integrated into research workflows. I argue that iML solutions are required to realize the promise of precision medicine. However, several open challenges remain. I examine the limitations of current state-of-the-art tools and propose a number of directions for future research. While the horizon for iML in genomics is...
Source: Human Genetics - October 20, 2021 Category: Genetics & Stem Cells Source Type: research

Identification of aneuploidy in dogs screened by a SNP microarray
This study represents the first use of microarrays for copy-number evaluation to identify cytogenetic anomalies in canines. As microarray analysis becomes more routine in canine genetic testing, more cases of chromosome aneuploidy are likely to be uncovered. (Source: Human Genetics)
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease
AbstractFamilial mitral valve prolapse in human beings has been associated with several genetic variants; however, in most cases, a known variant has not been identified. Dogs also have a naturally occurring form of familial mitral valve disease (MMVD) with similarities to the human disease. A shared genetic background and clinical phenotype of this disease in some dog breeds has indicated that the disease may share a common genetic cause. We evaluated DNA from 50 affected dogs from five different dog breeds in a whole genome sequencing approach to identify shared variants across and within breeds that could be associated ...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies
AbstractA frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ( “screw tail”) in English Bulldogs, French Bulldogs and Boston Terriers. These breeds are also characterized by distinctive morphological traits, including a wide head, flat face and short-limbed dwarfism, which are characteristic of Robinow syndrome in humans, caused by defects in genes such asDVL1 andDVL3. Based on these phenotypic and genetic similarities, it has previously been hypothesized that the canineDVL2 variant results in a syndromic phenotype called the Robinow-like syndrom...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
AbstractRetinitis pigmentosa (RP) is a blinding eye disease affecting nearly two million people worldwide. Dogs are affected with a similar illness termed progressive retinal atrophy (PRA). Lapponian herders (LHs) are affected with several types of inherited retinal dystrophies, and variants inPRCD andBEST1 genes have been associated with generalized PRA and canine multifocal retinopathy 3 (cmr3), respectively. However, all retinal dystrophy cases in LHs are not explained by these variants, indicating additional genetic causes of disease in the breed. We collected DNA samples from 10 PRA affected LHs, with knownPRCD andBES...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

Intronic variant in POU1F1 associated with canine pituitary dwarfism
AbstractThe anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At least 30 genes have been associated with human CPHD, including many transcription factors, such asPOU1F1. CPHD occurs spontaneously also in mice and dogs. Two affected breeds have been reported in dogs: German Shepherds with a splice defect in theLHX3 gene and Karelian Bear Dogs (KBD) with an unknown genetic cause. We obtained samples from five KBDs pr...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update
AbstractVast progress has been made in the clinical diagnosis and molecular basis of hereditary diseases and genetic predisposition in companion animals. The purpose of this report is to provide an update on the availability of DNA testing for hereditary diseases and genetic predispositions in dogs and cats utilizing the WSAVA-PennGen DNA Testing Database web resource (URL:http://research.vet.upenn.edu/WSAVA-LabSearch). Information on hereditary diseases, DNA tests, genetic testing laboratories and afflicted breeds added to the web-based WSAVA-PennGen DNA Testing Database was gathered. Following verification through origin...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
AbstractHearing loss is a common sensory deficit in both humans and dogs. In canines, the genetic basis is largely unknown, as genetic variants have only been identified for a syndromic form of hearing impairment. We observed a congenital or early-onset sensorineural hearing loss in a Rottweiler litter. Assuming an autosomal recessive inheritance, we used a combined approach of homozygosity mapping and genome sequencing to dissect the genetic background of the disorder. We identified a fully segregating missense variant inLOXHD1, a gene that is known to be essential for cochlear hair cell function and associated with nonsy...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
AbstractWe investigated the clinical, genetic, and pathological characteristics of a previously unknown severe juvenile brain disorder in several litters of Parson Russel Terriers. The disease started with epileptic seizures at 6 –12 weeks of age and progressed rapidly tostatus epilepticus and death or euthanasia. Histopathological changes at autopsy were restricted to the brain. There was severe acute neuronal degeneration and necrosis diffusely affecting the grey matter throughout the brain with extensive intraneuronal mitochondrial crowding and accumulation of amyloid- β (Aβ). Combined homozygosity ...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy
AbstractA juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed. Pedigree analysis indicated autosomal recessive inheritance. Genome-wide association and homozygosity mapping of 5 affected dogs from 3 litters identified the associated locus on chromosome 31 in the region ofSOD1. The DNA sequence analysis ofSOD1 showed that the patients were homozygous for a frameshift mutation in the f...
Source: Human Genetics - October 16, 2021 Category: Genetics & Stem Cells Source Type: research

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
AbstractMicrotubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations inTUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype –phenotype correlations. Here, we report fourteen individuals from thirteen unrelated families, each of whom harbors the identical NM_006086.4 (TUBB3):c.785G>A...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
AbstractInherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes ophthalmological manifestations related to retina, optic nerve and posterior visual alterations, mainly reported in cblC and sporadically in othercbl inborn errors.We searched MEDLINE EMBASE and Cochrane Library, and analyzed articles reporting ocular manifestations incbl inborn errors. Out of 166 studies a total of 52 studies reporting 163cbl and 24mut cases were included. Ocular manifestations were found in allcbl defects except for cblB and cblD...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health
AbstractBoth safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to optimize population-stratified care. Here, we provide an extensive updated analysis of population pharmacogenomics in ten pharmacokinetic genes (CYP2D6,CYP2C19,DPYD,TPMT,NUDT15 andSLC22A1), drug targets (CFTR) and genes involved in drug hypersensitivity (HLA-A,HLA-B) or drug-...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

Genetic etiology of non-syndromic hearing loss in Latin America
AbstractLatin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic profiles regarding the geographical origin of the ancestors and proportions of admixture between the Native American, European and African components. In the first years following the findings of the role of theGJB2/GJB6 genes in the etiology of hearing loss, most scientific investigations about the genetics of hearing loss in Latin America focused on assessing the frequencies of pathogenic variants in these genes. More recently, modern techniques...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
AbstractMicrotubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations inTUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype –phenotype correlations. Here, we report fourteen individuals from thirteen unrelated families, each of whom harbors the identical NM_006086.4 (TUBB3):c.785G>A...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
AbstractInherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes ophthalmological manifestations related to retina, optic nerve and posterior visual alterations, mainly reported in cblC and sporadically in othercbl inborn errors.We searched MEDLINE EMBASE and Cochrane Library, and analyzed articles reporting ocular manifestations incbl inborn errors. Out of 166 studies a total of 52 studies reporting 163cbl and 24mut cases were included. Ocular manifestations were found in allcbl defects except for cblB and cblD...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health
AbstractBoth safety and efficacy of medical treatment can vary depending on the ethnogeographic background of the patient. One of the reasons underlying this variability is differences in pharmacogenetic polymorphisms in genes involved in drug disposition, as well as in drug targets. Knowledge and appreciation of these differences is thus essential to optimize population-stratified care. Here, we provide an extensive updated analysis of population pharmacogenomics in ten pharmacokinetic genes (CYP2D6,CYP2C19,DPYD,TPMT,NUDT15 andSLC22A1), drug targets (CFTR) and genes involved in drug hypersensitivity (HLA-A,HLA-B) or drug-...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

Genetic etiology of non-syndromic hearing loss in Latin America
AbstractLatin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic profiles regarding the geographical origin of the ancestors and proportions of admixture between the Native American, European and African components. In the first years following the findings of the role of theGJB2/GJB6 genes in the etiology of hearing loss, most scientific investigations about the genetics of hearing loss in Latin America focused on assessing the frequencies of pathogenic variants in these genes. More recently, modern techniques...
Source: Human Genetics - October 15, 2021 Category: Genetics & Stem Cells Source Type: research

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
AbstractMitochondrial disorders are collectively common, genetically heterogeneous disorders in both pediatric and adult populations. They are caused by molecular defects in oxidative phosphorylation, failure of essential bioenergetic supply to mitochondria, and apoptosis. Here, we present three affected individuals from a consanguineous family of Pakistani origin with variable seizures and intellectual disability. Both females display primary ovarian insufficiency (POI), while the male shows abnormal sex hormone levels. We performed whole exome sequencing and identified a recessive missense variant c.694C  > &th...
Source: Human Genetics - October 13, 2021 Category: Genetics & Stem Cells Source Type: research

The population genetics characteristics of a 90 locus panel of microhaplotypes
AbstractSingle-nucleotide polymorphisms (SNPs) and small genomic regions with multiple SNPs (microhaplotypes, MHs) are rapidly emerging as novel forensic investigative tools to assist in individual identification, kinship analyses, ancestry inference, and deconvolution of DNA mixtures. Here, we analyzed information for 90 microhaplotype loci in 4009 individuals from 79 world populations in 6 major biogeographic regions. The study included multiplex microhaplotype sequencing (mMHseq) data analyzed for 524 individuals from 16 populations and genotype data for 3485 individuals from 63 populations curated from public repositor...
Source: Human Genetics - October 13, 2021 Category: Genetics & Stem Cells Source Type: research

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
AbstractMissense variants located in the N-terminal region of WDR37 were recently identified to cause a multisystemic syndrome affecting neurological, ocular, gastrointestinal, genitourinary, and cardiac development.WDR37 encodes a WD40 repeat-containing protein of unknown function. We identified three novelWDR37 variants, two likely pathogenic de novo alleles and one inherited variant of uncertain significance, in individuals with phenotypes overlapping those previously reported but clustering in a different region of the protein. The novel alleles are C-terminal to the prior variants and located either within the second ...
Source: Human Genetics - October 12, 2021 Category: Genetics & Stem Cells Source Type: research