A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23753
Abstract: Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with Leigh‐like syndrome identified homozygous protein‐truncating variants in two genes associated with Leigh syndrome; a… read more here.
Keywords: truncating variant; variants two; leigh syndrome; protein truncating ... See more keywords
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8
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DOI: 10.1111/cge.13666
Abstract: Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases… read more here.
Keywords: cerebellar ataxia; variant ca8; truncating variant; ca8 ... See more keywords
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108677
Abstract: The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved… read more here.
Keywords: related disorder; truncating variant; protein truncating; trappc2l related ... See more keywords
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108821
Abstract: Background Enzymes of the Golgi implicated in N-glycan processing are critical for brain development, and defects in many are defined as congenital disorders of glycosylation (CDG). Involvement of the Golgi mannosidase, MAN2A2 has not been… read more here.
Keywords: truncating variant; man2a2; neurological involvement; glycosylation ... See more keywords
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1
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DOI: 10.3390/genes13030411
Abstract: Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report… read more here.
Keywords: truncating variant; novel truncating; segment dysgenesis; anterior segment ... See more keywords