Molecular Genetics & Genomic Medicine
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Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular, and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders, and birth defects. The broad..
Molecular Genetics & Genomic Medicine
21h ago
Median age of first HA for the combined groups of females with OTCD (asymptomatic and asymptomatic at baseline but became symptomatic later during follow-up) was 50 years, whereas median age of first symptom which included neuropsychiatric and/or behavioral symptoms was 17 years. Multimodal neuroimaging studies underscore that asymptomatic female heterozygotes with OTCD are not always asymptomatic.
Abstract Background
Ornithine transcarbamylase deficiency (OTCD) due to an X-linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality ..read more
Molecular Genetics & Genomic Medicine
21h ago
We have found that a rs10789117 C>A in ANGPTL3 gene polymorphism was associated with incident CVD events, and this may be of value as a risk stratification biomarker in CVD in the Iranian population.
Abstract Background
Loss-of-function (LOF) variants of the angiopoietin-like 3 (ANGPTL3) gene are reported to be associated with serum triglyceride (TG) and high-density lipoprotein cholesterol (HDL-C) concentrations and thereby affect the risk of cardiovascular disease (CVD).
Objective
In the present study, we examined the association of rs10789117 in the ANGPTL 3 gene locus and the risk of ..read more
Molecular Genetics & Genomic Medicine
21h ago
We report a case of a metastatic sarcoma in a 34-year-old female originally diagnosed as an unclassified spindle cell sarcoma with myofibroblastic differentiation and later reclassified as inflammatory myofibroblastic tumor after next-generation sequencing (NGS) revealed a TFG-ROS1 rearrangement. Considering this case and previous literature, we support the use of NGS for patients requiring systemic treatment.
Abstract Background
Inflammatory myofibroblastic tumors (IMTs) are rare mesenchymal soft tissue sarcomas that often present diagnostic challenges due to their wide and varied morpholog ..read more
Molecular Genetics & Genomic Medicine
21h ago
Congenital disorders of glycosylation with novel phenotypes and disruptive N-glycan profiling caused by compound heterozygous MAN2B2 variants (NM_015274.1, c.384G>T; c.926T>A).
Abstract Background
Congenital disorders of glycosylation (CDG) are a type of inborn error of metabolism (IEM) resulting from defects in glycan synthesis or failed attachment of glycans to proteins or lipids. One rare type of CDG is caused by homozygous or compound heterozygous loss-of-function variants in mannosidase alpha class 2B member 2 (MAN2B2). To date, only two cases of MAN2B2-CDG have been reported worl ..read more
Molecular Genetics & Genomic Medicine
21h ago
The new identified mutation found in the present study.
Abstract Introduction
Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that causes water imbalance. The kidneys play a crucial role in regulating body fluids by controlling water balance through urine excretion. This highlights their essential function in managing the body's water levels, but individuals with NDI may have excess urine production (polyuria), that leads to excessive thirst (polydipsia). Untreated affected individuals may exhibit poor feeding and failure to thrive. This disease is caused by mutations in the A ..read more
Molecular Genetics & Genomic Medicine
21h ago
Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1. Variants in RARS1 decrease ArgRS activity and cause a wide range of symptoms, from severe, early onset epileptic encephalopathy with brain atrophy to a mild condition with relatively maintained myelination. We reviewed the articles and identified the first three patients with RARS1 homozygous pathogenic variants in Iran.
Abstract Background
Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS ..read more
Molecular Genetics & Genomic Medicine
21h ago
This study reports a case of auriculocondylar syndrome (ARCND) 2 resulted from a novel mutation in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypic of ARCND2. Incomplete penetrance and variable expressivity were observed within different families' heterozygous mutations in PLCB4.
Abstract Background
Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar ..read more
Molecular Genetics & Genomic Medicine
6d ago
No clear genotype–phenotype relationship of patients with ACAN variants were found. Gene sequencing is necessary to diagnose ACAN variant caused short stature. In general, appropriate rhGH and/or GnRHa therapy can improve the adult height of affected pediatric patients caused by ACAN variants.
Abstract Objective
To characterize the phenotype spectrum, diagnosis, and response to growth-promoting therapy in patients with ACAN variants causing familial short stature.
Methods
Three families with ACAN variants causing short stature were reported. Similar cases in the literature were summarized, a ..read more
Molecular Genetics & Genomic Medicine
1w ago
We provided detailed characteristics of eight individuals with genetically confirmed KCS2, which has been the largest cohort of KCS2 so far in China. We present the first genetically confirmed instance of father-to-daughter transmission of KCS2, which demonstrates an equal sex ratio of affected individuals.
Abstract Background
Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare inherited disorder characterized by proportionate short stature, skeletal defects, ocular and dental abnormalities, and transient hypocalcemia. It is caused by variants in FAM111A gene. Diagnosis of KCS2 can be c ..read more
Molecular Genetics & Genomic Medicine
1w ago
The clinical significance of duplications and complex rearrangements is often difficult to ascertain. In this study, we used optical genome mapping in a prenatal diagnosis setting to characterize a 15q23q24.2 triplication and to determine the orientation of a duplication encompassing part of the RB1 gene.
Abstract Background
Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy-number-variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangemen ..read more