A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0045-y
Abstract: Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a… read more here.
Keywords: mutation ttc8; novel compound; compound heterozygous; heterozygous mutation ... See more keywords
Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice.
Sign Up to like & getrecommendations! Published in 2022 at "Human reproduction"
DOI: 10.1093/humrep/deac026
Abstract: STUDY QUESTION Is a recurrent heterozygous mutation in ZP2, c.1925G>A (p.R642Q), associated with the Empty follicle syndrome (EFS)? SUMMARY ANSWER ZP2, c.1925G>A (p.R642Q), led to female infertility related to EFS in humans and mice and… read more here.
Keywords: mutation zp2; zp2r642q; mice; zp2 ... See more keywords
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000032970
Abstract: Rationale: Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis… read more here.
Keywords: congenital nephrotic; nphs1 gene; nephrotic syndrome; heterozygous mutation ... See more keywords
A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000033744
Abstract: Background: TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H2B and H4 in vitro and functions in… read more here.
Keywords: tbl1xr1 gene; tbl1xr1; child; case ... See more keywords
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
A New Compound Heterozygous Mutation Of BSCL2 In A Chinese Zhuang Ethnic Family With Congenital Generalized Lipodystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy"
DOI: 10.2147/dmso.s207293
Abstract: Purpose This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the BSCL2. Patients and… read more here.
Keywords: mutation; compound heterozygous; heterozygous mutation; family ... See more keywords
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-221532
Abstract: BACKGROUND The number of mutations in nuclear encoded genes causing mitochondrial disease is ever increasing. Identification of these mutations is particularly important in the diagnosis of neuromuscular disorders as their presentation may mimic other acquired… read more here.
Keywords: mitochondrial fission; mff; mitochondrial phenotype; mild mitochondrial ... See more keywords
A heterozygous mutation in NOTCH3 in a Chinese family with CADASIL
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.943117
Abstract: Introduction: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant systemic vascular disease that primarily involves small arteries. Patients with CADASIL experience migraines, recurrent ischemic strokes, cognitive decline, and dementia. The NOTCH3… read more here.
Keywords: mutation notch3; family; chinese family; notch3 chinese ... See more keywords
Epilepsy Combined With Multiple Gene Heterozygous Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.763642
Abstract: The fast pace of gene discovery has resulted in groundbreaking advances in the field of epilepsy genetics. Clinical testing using comprehensive gene panels, exomes, or genomes is now increasingly available and has significantly increased the… read more here.
Keywords: combined multiple; heterozygous mutation; mutation; gene ... See more keywords
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2019.10110
Abstract: Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium-glucose cotransporter 2 (SGLT2), have… read more here.
Keywords: slc5a2 gene; novel compound; gene; heterozygous mutation ... See more keywords