Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116669
Abstract: BAKGROUND Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two… read more here.
Keywords: rare novel; novel cyp2u1; family; zfyve26 ... See more keywords
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
Sign Up to like & getrecommendations! Published in 2020 at "Human Genome Variation"
DOI: 10.1038/s41439-020-0100-8
Abstract: This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with retinitis pigmentosa (RP) displaying visual difficulties, including nyctalopia and constricted visual fields. Linkage analysis… read more here.
Keywords: mutations cerkl; retinitis pigmentosa; rp1 cause; cerkl rp1 ... See more keywords
Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Research"
DOI: 10.1080/01616412.2020.1831329
Abstract: ABSTRACT Hereditary spastic paraplegias (HSPs) are a diverse class of neurodegenerative disorders that mainly affect the corticospinal tract of the body and result in various clinical conditions such as lower limb spasticity and muscle weakness… read more here.
Keywords: family; pakistani family; deletion; cytochrome domain ... See more keywords
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
Sign Up to like & getrecommendations! Published in 2017 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2016.0328
Abstract: AIM To investigate the causative genetic mutations in 12 Pakistani families with nonsyndromic or syndromic hearing loss. METHODS Mutations in the most common causative gene for hearing loss, GJB2, were evaluated by Sanger sequencing. Targeted… read more here.
Keywords: hearing loss; loss; nonsyndromic syndromic; families nonsyndromic ... See more keywords
Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
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DOI: 10.3390/genes13040617
Abstract: Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestations of achromatopsia, a partial… read more here.
Keywords: cone photoreceptor; cone; pakistani families; cnga3 ... See more keywords
Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14051118
Abstract: Vitiligo is an autoimmune complex pigmentation disease characterized by non-pigmented patches on the surface of the skin that affect approximately 0.5–2% population worldwide. The exact etiology is still unknown; however, vitiligo is hypothesized to be… read more here.
Keywords: etiology; whole exome; pakistani families; consanguineous pakistani ... See more keywords