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Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
Eur J Hum Genet
June 2024
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Article Synopsis
- Hearing loss (HL) can be caused by variations in over 200 genes, but many families still don't receive a clear genetic diagnosis despite extensive testing.
- In a study involving families with severe to profound, non-syndromic bilateral sensorineural HL, researchers used advanced genetic sequencing techniques to uncover the complexity of multiple gene variants contributing to HL in family members.
- One novel finding included a variant in the TOGARAM2 gene, suggesting it could be linked to autosomal recessive non-syndromic HL, highlighting the importance of analyzing each affected individual to identify both known and potential new HL-related genes.
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship.
Neurogenetics
January 2024
Department of Ophthalmology, IHU FOReSIGHT, Hôpital Universitaire Pitié-Salpêtrière, Sorbonne Université, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
Article Synopsis
- A new form of retinopathy has been observed in patients with ataxia due to vitamin E deficiency (AVED), which differs from typical retinitis pigmentosa (RP).
- The case series involves two related patients who showed unique retinal patterns characterized by scattered, bright patches that are stable even with vitamin E treatment.
- Researchers suggest that these retinal changes may be due to halted progression of RP in AVED patients who received early vitamin E supplementation.
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
Yale J Biol Med
September 2023
Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
We present a Pakistani kinship afflicted with a syndrome with features including short stature, reduced sitting height, orofacial symptoms including prominent forehead and thick eyebrows, short and broad thorax, and variable features such as long philtrum, short broad neck, barrel chest, thoracic kyphoscoliosis, hypogonadism, and hypospadias. Phenotypic variation even within different sibships was considerable. The unique combination of the phenotypic characteristics prompted us to determine the shared homozygosity regions in patient genomes and the pathogenic variants by next generation technologies like single nucleotide polymorphism (SNP) genotyping and whole exome sequencing (WES).
View Article and Find Full Text PDFInactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.
Hum Genet
September 2023
Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000, Louvain, Belgium.
Mutations in TDP2, encoding tyrosyl-DNA phosphodiesterase 2, have been associated with a syndromal form of autosomal recessive spinocerebellar ataxia, type 23 (SCAR23). This is a very rare and progressive neurodegenerative disorder described in only nine patients to date, and caused by splice site or nonsense mutations that result in greatly reduced or absent TDP2 protein. TDP2 is required for the rapid repair of DNA double-strand breaks induced by abortive DNA topoisomerase II (TOP2) activity, important for genetic stability in post-mitotic cells such as neurons.
View Article and Find Full Text PDFA homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.
Br J Dermatol
February 2023
Department of Dermatology.
Background: A trio exome sequencing study identified a previously unreported NLRP1 gene variant resulting in a p.Leu813Pro substitution of the LRR (leucine-rich repeats) domain of the NLRP1 protein (NACHT, LRR and PYD domains-containing protein 1). This homozygous mutation was shared by two sisters with different clinical presentation: the younger sister had generalized inflammatory nodules with keratotic plugs, clinically resembling multiple keratoacanthomas, while the older had manifestations of familial keratosis lichenoides chronica.
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