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
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.54
Abstract: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had BHLHA9 mutations have been reported. The present… read more here.
Keywords: mesoaxial synostotic; syndactyly phalangeal; novel homozygous; pakistani family ... See more keywords
A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0734-x
Abstract: Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare, recessively inherited neurological condition frequently involving insensitivity to pain. The subtype, HSAN2A, results from mutations in the gene WNK1. We identified a consanguineous Pakistani… read more here.
Keywords: hsanii; insensitivity pain; pakistani family; insensitivity ... 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 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
A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llad042
Abstract: We identified a novel homozygous disease-causing variant in TMC8 in a Pakistani family with Epidermodysplasia Verruciformis (EV). The phenotype of EV in the affected individuals was most probably caused by an aberrant splicing process. The… read more here.
Keywords: pakistani family; tmc8 splice; splice variant; epidermodysplasia verruciformis ... See more keywords
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0532-x
Abstract: BackgroundL-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.Case… read more here.
Keywords: family; pakistani family; case; report ... See more keywords
FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14020346
Abstract: Congenital idiopathic nystagmus (CIN) is an oculomotor disorder characterized by repetitive and rapid involuntary movement of the eye that usually develops in the first six months after birth. Unlike other forms of nystagmus, CIN is… read more here.
Keywords: pakistani family; idiopathic nystagmus; congenital idiopathic; gene ... See more keywords