A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00832-2
Abstract: BACKGROUND L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA includes intellectual disability, cerebellar ataxia,… read more here.
Keywords: family; pakistani family; l2hgdh; hydroxyglutaric aciduria ... See more keywords
Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2017.0229
Abstract: AIMS To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was… read more here.
Keywords: large consanguineous; family; generation; aspm ... See more keywords
Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2018.0122
Abstract: BACKGROUND Escobar syndrome, a nonlethal variant of multiple pterygium syndromes (MPS), is a rare autosomal recessive disorder characterized by pterygia and multiple joint contractures along with other anomalies. Variants in cholinergic receptor nicotinic gamma subunit… read more here.
Keywords: rare autosomal; pakistani family; family; autosomal recessive ... See more keywords
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2018.0123
Abstract: BACKGROUND Mucolipidosis III gamma (MLIIIγ) is a rare autosomal recessive disorder characterized by radiographic evidence of mild-to-moderate dysostosis multiplex, progressive joint stiffness and pain, scoliosis, and normal to mildly impaired cognitive development. Cardiac valve involvement… read more here.
Keywords: iii gamma; mucolipidosis iii; pakistani family; family ... See more keywords
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.13266
Abstract: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT… read more here.
Keywords: two homozygous; homozygous missense; glanzmann thrombasthenia; missense mutations ... See more keywords
Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13030543
Abstract: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by severe sensitivity of skin to sunlight and an increased risk of skin cancer. XP variant (XPV), a milder subtype, is caused by variants… read more here.
Keywords: consanguineous pakistani; xeroderma pigmentosum; frameshift; polh gene ... 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