A novel heterozygous ERCC6 variant identified in a Chinese family with non‐syndromic primary ovarian insufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2040
Abstract: Premature ovarian insufficiency (POI) is a clinical syndrome occurring in women before 40 with decreased ovarian function. Up to 25% of POI cases result from genetic factors that remain largely unknown. The Excision repair cross‐complementing,… read more here.
Keywords: novel heterozygous; ovarian insufficiency; ercc6 variant;
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2146
Abstract: Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and so on. Here, we… read more here.
Keywords: novel heterozygous; alternating hemiplegia; heterozygous atp1a2; melas like ... See more keywords
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2393
Abstract: Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high… read more here.
Keywords: short stature; novel heterozygous; brachydactyly type;
A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Diabetes"
DOI: 10.1111/1753-0407.13183
Abstract: Highlights A novel heterozygous mutation in the SLC5A2 gene in a 2-year-old girl with severe asymptomatic glycosuria, mild failure to thrive, and subclinical hypoglycemia: Continuous glucose monitoring identified 14% hypoglycemic excursions (< 70 mg/dl), reduced… read more here.
Keywords: novel heterozygous; glycosuria mild; slc5a2 gene; mild failure ... See more keywords
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13232
Abstract: Circumferential skin creases Kunze type (CSC‐KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed creases, known as Michelin Tire Baby Syndrome (MTBS). CSC‐KT patients also exhibit… read more here.
Keywords: csc; mutation terminal; novel heterozygous; tubb gene ... See more keywords
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13880
Abstract: Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report… read more here.
Keywords: associated previously; novel heterozygous; variant; variant fgf9 ... See more keywords
A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Ovarian Research"
DOI: 10.1186/s13048-024-01462-9
Abstract: Pannexin1 (PANX1) is a highly glycosylated membrane channel-forming protein, which has been found to implicate in multiple physiological and pathophysiological functions. Variants in the PANX1 gene have been reported to be associated with oocyte death… read more here.
Keywords: human oocyte; variant; panx1; novel heterozygous ... See more keywords
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report
Sign Up to like & getrecommendations! Published in 2024 at "Translational Pediatrics"
DOI: 10.21037/tp-23-454
Abstract: Background The protein PEX26 is involved in the biogenesis and maintenance of peroxisomes, which are organelles within cells. Dysfunction of PEX26 results in peroxisome biogenesis disorders (PBDs) complementation group 8 (CG8), leading to Zellweger spectrum… read more here.
Keywords: pex26 gene; identification novel; heterozygous variant; novel heterozygous ... See more keywords
Identification of a Novel Heterozygous Mutation in the EIF2B4 Gene Associated With Vanishing White Matter Disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2022.901452
Abstract: Vanishing white matter disease (VWM) is one of the most common childhood inherited leukoencephalopathies with autosomal recessive inheritance. Mutations in five genes, EIF2B1-5, have been identified as the major cause of VWM. In this study,… read more here.
Keywords: matter disease; white matter; novel heterozygous; vanishing white ... See more keywords
A novel heterozygous frameshift pathogenic variant in GCM2 gene causing isolated hypoparathyroidism: a case report
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2025.1589182
Abstract: Glial cells missing transcription factor 2 (GCM2) is one of the genes responsible for isolated hypoparathyroidism. Most cases of hypoparathyroidism caused by GCM2 pathogenic variants result from homozygous or compound heterozygous loss-of-function variants, with only… read more here.
Keywords: hypoparathyroidism; gcm2; variant; isolated hypoparathyroidism ... See more keywords
A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2020.00184
Abstract: Thrombophilia refers to a group of conditions where the blood clots more easily than normal. These blood clots can cause problems such as deep vein thrombosis or pulmonary embolism. Most kinds of mutated coagulation factors… read more here.
Keywords: novel heterozygous; antithrombin resistance; novel mutation; heterozygous variant ... See more keywords