Cas9‐guided haplotyping of three truncation variants in autosomal recessive disease
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24385
Abstract: An autosomal recessive disease is caused by biallelic loss‐of‐function mutations. However, when more than two disease‐causing variants are found in a patient's gene, it is challenging to determine which two of the variants are responsible… read more here.
Keywords: disease; three truncation; truncation; truncation variants ... See more keywords
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24426
Abstract: We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug‐resistant epilepsy, hypotonia, severe gastro‐esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a novel variant… read more here.
Keywords: splicing variant; first splicing; hecw2 autosomal; variant hecw2 ... See more keywords
Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Virology"
DOI: 10.1002/jmv.27016
Abstract: Infections due to human herpesvirus 6 (HHV‐6) are frequent during early childhood. Usually, they have a favorable clinical course. Conversely, HHV‐6 congenital infections occur in about 1% of neonates and may present with more severe… read more here.
Keywords: autosomal recessive; hhv; pneumonia; interstitial pneumonia ... See more keywords
SPG15: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13027
Abstract: Hereditary spastic paraplegias (HSP) are a group of genetically and phenotypically heterogeneous disorders resulting from progressive degeneration of the corticospinal tract. They may have autosomal dominant, autosomal recessive, x-linked, or mitochondrial inheritance, and the main… read more here.
Keywords: hsp; spg15; spg15 rare; autosomal recessive ... See more keywords
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders"
DOI: 10.1002/mds.28612
Abstract: Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) causes unique retinal abnormalities, which have not been systematically investigated. read more here.
Keywords: saguenay arsacs; charlevoix saguenay; spastic ataxia; ataxia charlevoix ... See more keywords
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1620
Abstract: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and… read more here.
Keywords: compound heterozygous; autosomal recessive; stickler syndrome; heterozygous mutations ... See more keywords
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1889
Abstract: Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes… read more here.
Keywords: recessive monilethrix; monilethrix; dsg4 gene; autosomal recessive ... See more keywords
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.539
Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear… read more here.
Keywords: mutations genotype; congenital ichthyosis; unknown mutations; recessive congenital ... See more keywords
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.952
Abstract: The congenital stationary night blindness (CSNB) affects the patients' dim light vision or dark adaption by impairing the normal function of retina. It is a clinically and genetically heterogeneous disorder and can be inherited in… read more here.
Keywords: stationary night; congenital stationary; autosomal recessive; night blindness ... See more keywords
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Sign Up to like & getrecommendations! Published in 2018 at "Calcified Tissue International"
DOI: 10.1007/s00223-018-0414-4
Abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I… read more here.
Keywords: novel homozygous; col1a2; caused novel; osteogenesis imperfecta ... See more keywords
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene
Sign Up to like & getrecommendations! Published in 2018 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-018-04233-7
Abstract: PurposePosterior column ataxia and retinitis pigmentosa (PCARP) is a rare form of syndromic RP associated with mutations in the FLVCR1 gene. Recent evidence has suggested a spectrum in the phenotype depending on the genotype.MethodsSix individuals… read more here.
Keywords: flvcr1 gene; ophthalmology; retinitis pigmentosa; autosomal recessive ... See more keywords