Molecular Syndromology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Proteomic Analysis of m.8296A & #x3e;G Variation in the Mitochondrial tRNA Lys Gene
In this study, we aimed to analyze the mitochondrial proteome in a patient with m.8296A#x3e;G variation to elucidate the effects of this mutation at the protein level. Whole-exome sequencing and mitochondrial genome analysis were performed in a patient with sensorineural hearing impairment, cognitive impairment, leukodystrophy, migraine-like headaches, and gastrointestinal dysmotility. Mitochondrial genome analysis identified a homoplasmic m.8296A#x3e;G variation in the mitochondrialtRNALys gene in the proband and unaffected mother. Global mitochondrial proteome analysis was carried out in the muscle mitochondria of the in...
Source: Molecular Syndromology - February 9, 2022 Category: Molecular Biology Source Type: research

A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder
Discussion: Prominent features of NAXD deficiency are progressive neurological deterioration after fever, cardiomyopathy, skin lesions, and premature death. Unlike the cases reported in the literature, our patient had neither preceding fever nor skin lesion during follow-up. It appears that cases show phenotypic diversity.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 8, 2022 Category: Molecular Biology Source Type: research

Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis
Discussion: Our study results pose a great challenge to prenatal diagnosis of TCS. The prenatal diagnosis cannot only rely on genetic testing. Instead, an early detailed sonographic survey will be helpful for the identification of TCS.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 8, 2022 Category: Molecular Biology Source Type: research

Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease
Background: Asprosin is a novel fasting-induced, glucogenic, and orexigenic protein hormone that is discovered with the help of genetic studies in patients with neonatal progeroid syndrome. Asprosin is encoded by the penultimate 2 exons (65 and 66) of the fibrillin 1 (FBN1) gene. Profibrillin 1 is the unprocessed protein product ofFBN1 and undergoes a proteolytic cleavage by furin enzyme to produce mature fibrillin 1 and asprosin. The main organ responsible for the asprosin production seems to be white adipose tissue.Summary: Asprosin promotes hepatic glucose release in the liver and appetite stimulation in the hypothalamu...
Source: Molecular Syndromology - February 8, 2022 Category: Molecular Biology Source Type: research

A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation
In this study, we report a patient carrying a microdeletion of 7.5 Mb at 10q22.3q23.2 and in addition a mosaicism mos 47,XXY[47]/46,XY[23].This male patient was 3 years and 3 months years old at the time of genetic evaluation. Atrial ventricular septal defect (AVSD), mild hypotonia, torticollis, and left-sided club foot were noticed after birth. The boy had surgical correction of the AVSD and the club foot. His dysmorphic features were frontal bossing, overfolded ear helix, hypertelorism, epicanthal folds, broad base of nose, flat nasal bridge, full cheeks, thick lips, micrognathia, and joint hyperextensibility. His speech...
Source: Molecular Syndromology - February 7, 2022 Category: Molecular Biology Source Type: research

Deep White Matter Cysts in a Patient with Aicardi-Gouti ères Syndrome and SAMHD1 Variants
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 7, 2022 Category: Molecular Biology Source Type: research

X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
Spinal muscular atrophy, X-linked 2 (SMAX2) is a rare type of spinal muscular atrophy characterized by muscle weakness, hypotonia, areflexia, myopathic face, tongue fibrillations, contractures, bone fractures, and cryptorchidism. Variants of theUBA1 gene lead to SMAX2. TheUBA1 gene encodes a protein that activates the ubiquitin pathway which is responsible for protein degradation. Here, we describe a family presenting with hypotonia, muscle weakness, areflexia, contractures, weak cry, in association with other anomalies including myopathic face, scoliosis, tongue fibrillations, and cryptorchidism. Molecular analysis in 2 p...
Source: Molecular Syndromology - February 4, 2022 Category: Molecular Biology Source Type: research

Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing
This study demonstrates that NIPT has the ability to identify submicroscopic copy number variations (CNVs) in fetuses, which in some cases may result from a parent being a balanced rearrangement carrier. Because of the differences in resolution and the various benefits and limitations of each genetic technique, great care must be taken when deciding on which test(s) to employ in family studies.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 4, 2022 Category: Molecular Biology Source Type: research

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome
Conclusion: This case suggests that in countries with a high frequency of consanguineous marriage, even if the molecular genetic analysis results are not compatible with the clinical findings, it should be kept in mind that different genetic diseases may coexist.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 3, 2022 Category: Molecular Biology Source Type: research

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). These variants tend to occur in the terminal exons ofKAT6B. Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 ofKAT6B. The patient showed a phenotype differing from those of SBBYSS and GPS. We also report patients with missense variants in the proximal exons ofKAT6B showing dysmorphic features and autistic behavior not resembli...
Source: Molecular Syndromology - February 2, 2022 Category: Molecular Biology Source Type: research

New Report of a Different Clinical Presentation of CD151 Splicing Mutation (c.351+2T & #x3e;C): Could TSPAN11 be Considered as a Potential Modifier Gene for CD151 ?
This study supports the pathogenic effect of theCD151 variant c.351+2T#x3e;C, highlights the extensive variable expressivity amongst patients, reinforces the contribution of genomic content to clinical characteristics ofCD151 mutations, and accentuates the importance of modifier genes.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 1, 2022 Category: Molecular Biology Source Type: research

A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature
We report here on 2 siblings who presented with neonatal lactic acidosis, microcephaly, growth retardation, persistent seizures, and cholestasis with a previously undefinedRARS2 pathogenic variant. In our literature review, we evaluated the clinical features and pathogenic variants of 34 patients reported in 16 publications since the initial identification ofRARS2 pathogenic variants in PCH6 in 2007. Both siblings were detected with c.1564G#x3e;A (p.Val522Ile), a novel homozygous pathogenic variant of theRARS2 gene. Imaging revealed advanced cerebral atrophy and cerebellar hypoplasia, while the basal ganglia and pons were ...
Source: Molecular Syndromology - February 1, 2022 Category: Molecular Biology Source Type: research

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)
Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clinic. Chromosome analysis and array-CGH showed a copy number loss of 9 Mb in the 11q24.2q25 region. Herein, we report her clinical findings. This is the first case of Jacobsen syndrome with dextrocardia.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - February 1, 2022 Category: Molecular Biology Source Type: research

Erratum
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 31, 2022 Category: Molecular Biology Source Type: research

A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot
OTUD6B, which encodes a member of the ovarian tumor domain-containing deubiquitinating enzyme, has recently been associated with autosomal recessive intellectual disability syndrome with seizures and dysmorphic features. Here, we report one additional case with Tetralogy of Fallot (ToF), who has microcephaly and dysmorphic features along with renal parenchymal disease with simple cortical cysts. The family ’s first pregnancy was medically terminated due to antenatal diagnosis of ToF. A novel homozygous variant inOTUD6B (c.815T#x3e;G; p.[Ile272Arg]) was revealed by whole exome sequencing (WES) along with a previously repo...
Source: Molecular Syndromology - January 26, 2022 Category: Molecular Biology Source Type: research