Two Different PRKN Compound Heterozygous Variants Combinations in the Same Family
Sign Up to like & getrecommendations! Published in 2023 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13725
Abstract: Bi-allelic PRKN variants are involved in 34% to 45% of familial recessive early-onset Parkinson ’ s diseases, 1,2 read more here.
Keywords: prkn compound; two different; heterozygous variants; variants combinations ... See more keywords
Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles
Sign Up to like & getrecommendations! Published in 2021 at "Neurological Sciences"
DOI: 10.1007/s10072-020-05021-0
Abstract: Background: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness. Case presentation: Herein, we report a case of… read more here.
Keywords: heterozygous variants; rimmed vacuoles; muscle; congenital myasthenic ... See more keywords
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0776-0
Abstract: Two variants in the ubiquitously expressed NHLRC2 gene have been reported to cause a lethal fibrotic cerebropulmonary disease termed fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome in three Finnish children. Our objective was to determine… read more here.
Keywords: heterozygous variants; nhlrc2 patient; variants nhlrc2; novel compound ... See more keywords
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1393827
Abstract: Retinitis pigmentosa (RP) refers to a group of inherited disorders that affect the retina’s ability to respond to light, leading to progressive visual loss. One of the genes found to be responsible for RP is… read more here.
Keywords: compound heterozygous; heterozygous variants; variants ift140; retinitis pigmentosa ... See more keywords
Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of “Immune TOR-Opathies”
Sign Up to like & getrecommendations! Published in 2022 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2022.2088912
Abstract: Abstract Background A small subset of cases of inflammatory bowel disease (IBD) occurs as a result of single gene defects, and typically occurs in young or very young pediatric patients, referred to as “monogenic very-early… read more here.
Keywords: chronic active; heterozygous variants; early onset; active colitis ... See more keywords
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0100
Abstract: Background: Conventional newborn screening (NBS) is usually based on biochemical methods to predict the risk of inborn errors of metabolism. Recent studies have applied next-generation sequencing in NBS and revealed much more information, including carrier… read more here.
Keywords: heterozygous variants; carrier status; carriers heterozygous; heterozygous carriers ... See more keywords
Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac192
Abstract: Abstract Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable holoprosencephaly in humans and mice. We identified two children with… read more here.
Keywords: heterozygous variants; pou1f1; variants six3; cause ... See more keywords
Novel compound heterozygous variants of DNAH17 in a Chinese infertile man with multiple morphological abnormalities of sperm flagella
Sign Up to like & getrecommendations! Published in 2022 at "Andrologia"
DOI: 10.1111/and.14553
Abstract: Multiple morphological abnormalities of the sperm flagellum (MMAF) have been reported to be an important cause of male infertility and reflect a heterogeneous genetic disorder. Previous studies have identified dozens of candidate pathogenic genes for… read more here.
Keywords: heterozygous variants; compound heterozygous; multiple morphological; abnormalities sperm ... See more keywords
First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene
Sign Up to like & getrecommendations! Published in 2019 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12557
Abstract: Leukodystrophies are rare inherited myelin disorders affecting the white matter of the central nervous system. In several leukodystrophies the underlying disease mechanism is well known but there is still a large group with undiscovered etiology.… read more here.
Keywords: heterozygous variants; variants pigt; report; neuropathological findings ... See more keywords
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-107971
Abstract: Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of… read more here.
Keywords: pathogenic variants; overlapping cortical; grin1 grin2b; heterozygous variants ... See more keywords
Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0540-x
Abstract: BackgroundCongenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH can be reduced if the condition… read more here.
Keywords: heterozygous variants; multiple pdz; compound heterozygous; gene ... See more keywords