A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.322
Abstract: The CYP11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss… read more here.
Keywords: cyp11a1 trans; variant cyp11a1; cyp11a1; splice site ... See more keywords
Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.05.013
Abstract: Dystrophinopathies are a group of X-linked neuromuscular disorders that result from pathogenic variants in the DMD gene. Their pathophysiological substrate is the defective expression of dystrophin in many tissues. While patients from the same pedigree… read more here.
Keywords: dmd; splice site; phenotypic; site variant ... See more keywords
Exome sequencing identifies a homozygous splice site variant in RP1 as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Medicine"
DOI: 10.1080/07853890.2025.2470953
Abstract: Abstract Background Mutations in RP1 gene are the third leading cause of inherited retinal dystrophies (IRDs) in Pakistani families. Patients A two-generation consanguineous Pakistani family underwent both clinical and genetic analyses. Clinical examinations included visual… read more here.
Keywords: splice site; family; site variant; pakistani family ... See more keywords
A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis
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DOI: 10.1111/cge.14698
Abstract: Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder associated with 1/3000 to 1/5000 live births. We report a consanguineous family with multiple affected members with AMC and identified a recessive mutation in the highly conserved… read more here.
Keywords: arthrogryposis; splice site; site variant; variant senp7 ... See more keywords
Splice-site variant c.3531+1G>T in COL1A1 in a family with osteogenesis imperfecta
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DOI: 10.3892/mmr.2025.13582
Abstract: Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by high genetic and phenotypic heterogeneity. Notably, 90% of cases of OI are caused by pathogenic variants in the COL1A1 and COL1A2 genes, with those in… read more here.
Keywords: site variant; splice site; family; variant 3531 ... See more keywords