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.

Evaluation of the Effect of FOXO3 rs13217795 Genotype and Minor Allele (C) on Clinical Chemistry and Genetic Risk of Diabetes Among the Elderly Individuals from Northern India
The forkhead box O family (FOXO) is expressed ubiquitously in a spatio-temporal manner and plays a key role in cellular metabolism, senescence, and aging. Genetic mutations in FOXO lead to metabolic diseases and cancer,and affect the longevity of individuals. Our study investigated how the genetic risk of type 2 diabetes mellitus (T2DM) altered due to an intronic variant rs13217795 of the longevity-associatedFOXO3 gene in the geriatric population of North India. Genotypic characteristics of rs13217795 were determined among 347 age sex-matched (177 diabetic cases, 170 healthy controls) elderly individuals by TaqMan SNP assa...
Source: Molecular Syndromology - October 8, 2021 Category: Molecular Biology Source Type: research

A Case of Combined Oxidative Phosphorylation Deficiency 35 Associated with a Novel Missense Variant of the TRIT1 Gene
This study expands the genotype-phenotype spectrum ofTRIT1-related COXPD35.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 30, 2021 Category: Molecular Biology Source Type: research

Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant
Heterozygous activating missense variants ofPDGFRB are associated with the phenotype of Kosaki overgrowth syndrome (KOGS). Here, we present a family including a father and 2 siblings with a novel variant, c.2567A#x3e;T (p.Asn856Ile), localized in the cytoplasmic tyrosine kinase domain, exhibiting a KOGS phenotype. The coarsening of the facial features, enlargement of the hands/feet, and progressive scoliosis started to appear after an average age of 6. There were no signs of thin/fragile skin, premature aging appearance, myofibroma, white matter findings, and intellectual disability in any of them. Corneal pterygium and ev...
Source: Molecular Syndromology - September 29, 2021 Category: Molecular Biology Source Type: research

 BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy
Three siblings born to Turkish parents from the same village had normal brain development until acute neurological deterioration between 12 months and 8 years of age. Consequent loss of all acquired motor, social, and language functions following infections was associated with a pontine cyst, calcification, and cerebellar atrophy. Exome sequencing revealed a homozygous c.1297G#x3e;A (p.Gly433Ser) alteration inBEND4, which was predicted to be deleterious in in silico analysis tools and segregated in multiple affected individuals in the family.BEND4 has not been associated with any existing disease. Immunofluorescence micros...
Source: Molecular Syndromology - September 28, 2021 Category: Molecular Biology Source Type: research

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features
Spondylometaepiphyseal dysplasia short limb-abnormal calcification type (SMED-SL/AC) is a rare autosomal recessive disorder. It is a severe dwarfism syndrome with a characteristic feature of progressive calcification of epiphyseal and other cartilaginous tissues. It is caused by pathogenic variants in theDDR2 gene encoding the discoidin domain receptor tyrosine kinase 2. Thus far, 37 cases and 8 pathogenic variants have been reported. Most of the reported cases are of Middle Eastern and Puerto Rican origins. Only one Turkish case has been reported previously with a novel truncating variant p.(R489*). Here, we report 2 new ...
Source: Molecular Syndromology - September 28, 2021 Category: Molecular Biology Source Type: research

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
In this study, we describe a 5-year-old boy with a de novo novel nonsense variant inCSNK2A1, NM_001895.3:c.319C#x3e;T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 22, 2021 Category: Molecular Biology Source Type: research

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thrive, feeding difficulties and developmental delay became apparent, and an epileptic seizure was observed at 11 months of age. Progressive deterioration and swallowing difficulty were observed. A brain MRI revealed a widening of the cerebrospinal fluid spaces and ventricular system, and decreased protein C, protein S and antithrombin III l...
Source: Molecular Syndromology - September 21, 2021 Category: Molecular Biology Source Type: research

Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene
Autosomal recessive primary microcephaly (MCPH) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 SD. MCPH is a group of diseases with genetic heterogeneity and has been reported by the Online Mendelian Inheritance In Man ® (OMIM) database and associated with 25 different genes. It is known that MCPH cases are most frequently associated with abnormal spindle-like, microcephaly-associated (ASPM) gene mutations. The ASPM protein consists of an N-terminal 81 IQ (isoleucine-glutamine) domain, a calponin-homology domain, and a C-terminal...
Source: Molecular Syndromology - September 15, 2021 Category: Molecular Biology Source Type: research

Balanced at First Sight, but in Reality out of Balance
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 13, 2021 Category: Molecular Biology Source Type: research

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review
In conclusion, Noonan syndrome spectrum disorders, Noonan syndrome in particular, are associated with lymphatic abnormalities. Combining the available published literature about genetically proven Noonan syndrome spectrum disorders, it appears likely that the lifetime prevalence of these abnormalities in Noonan syndrome is higher than the 20% that were generally accepted so far. This is increasingly important, because the activation of the RAS/MAPK pathway can be inhibited by RAS/MAPK inhibitors, and clinically severe lymphatic abnormalities may improve.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 10, 2021 Category: Molecular Biology Source Type: research

A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant
Common causes of hypoglycemia include hyperinsulinism, hormonal deficiencies, fatty acid oxidation disorders, and glycogen storage diseases; however, rare causes should also be considered for the condition. Mitochondrial complex III deficiency shows an autosomal recessive or a mitochondrial inheritance pattern. To date, mitochondrial complex III deficiency, nuclear type 3 attributable to a pathogenic variant of theUQCRB gene (MIM 615158) has been identified in only 2 pediatric patients; both presented with hypoglycemia and lactic acidosis. In this paper, we present a patient with mitochondrial complex III deficiency, nucle...
Source: Molecular Syndromology - September 9, 2021 Category: Molecular Biology Source Type: research

Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G#x3e;A (p.Arg168His) missense mutation inIRX5 in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - August 31, 2021 Category: Molecular Biology Source Type: research

Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient
The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/palate compose the facial gestalt, which is the key component for diagnosing the syndrome. Biallelic pathogenic variants inMASP1, COLEC11, andCOLEC10 are responsible for 3MC syndrome in which both genotypic and phenotypic heterogeneity is described. To date, 16 homozygous/compound heterozygous pathogenic variations in 27 patients from 22 families have been reported in theMASP1 gene...
Source: Molecular Syndromology - August 31, 2021 Category: Molecular Biology Source Type: research

Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease
This study reports the first Brazilian family diagnosed with MCTO with progressive osteolysis of the carpal and tarsal bones, presenting a c.161C#x3e;T (p.Ser54Leu) heterozygous variant in theMAFB gene, describing the clinical, radiological, and molecular findings, compared with literature data, and discussing the different clinical and molecular diagnosis, as well as the natural history of the disease. Since MCTO is a disorder with progressive symptoms, an early diagnosis is important to avoid unnecessary investigations and treatments and to provide the proper follow-up.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - August 27, 2021 Category: Molecular Biology Source Type: research

 FIG4 -Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant
We report a neonate born to a consanguineous couple with typical clinical manifestations of YVS. Using whole-exome sequencing, we identified a novel homozygous missense variant (c.968A#x3e;G; p.Gln323Arg) in theFIG4 gene. Thus, our study expands the molecular and genetic spectrum ofFIG4-associated mutations. To our knowledge, this is the first reported case of YVS from the Saudi population.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - August 27, 2021 Category: Molecular Biology Source Type: research