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A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with reduced penetrance and variable expressivity. This study...
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Identification of Four Novel Candidate Genes for Non-syndromic Intellectual Disability in Pakistani Families
Intellectual disability, a genetically and clinically varied disorder and is a significant health problem, particularly in less developed countries...
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A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family
BackgroundL-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the...
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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
BackgroundIntellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by...
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Protooncogene MDM2 SNP309 (rs2279744) Analysis of Polymorphism in Thyroid Cancer: Pakistani Population
AbstractMDM2 has been found to be a major adverse regulatory factor for p53 and to be associated with increased expression of MDM2 with the...
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Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis
BackgroundNephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium...
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Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
BackgroundCharcot–Marie–Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies...
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Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are...
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Polymorphic Analysis of Genes PADI4 (rs2240340, rs1748033) and HLA-DRB1 (rs2395175) in Arthritis Patients in Pakistani Population
Genes are an important factor for the initiation of any disease. Many genes are associated with rheumatoid arthritis (RA) other than environmental...
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A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain
Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare, recessively inherited neurological condition frequently involving...
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A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred
BackgroundHearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous...
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A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family
BackgroundAmelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental...
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Complete mitogenomes document substantial genetic contribution from the Eurasian Steppe into northern Pakistani Indo-Iranian speakers
To elucidate whether Bronze Age population dispersals from the Eurasian Steppe to South Asia contributed to the gene pool of Indo-Iranian-speaking...
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Pakistani healthcare professionals’ perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC
Pakistan has the highest incidence and mortality rates of breast cancer in Asia, with high numbers of patients diagnosed at a young age suggesting...
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GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
AbstractGM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a...
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Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan
BackgroundBRCA1 and BRCA2 (BRCA1/2) are the most frequently investigated genes among Caucasian pancreatic cancer patients, whereas limited reports...
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Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
Pathogenic variants in MYO15A are known to cause autosomal recessive nonsyndromic hearing loss (ARNSHL), DFNB3. We have previously reported on one...
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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
This study was conducted to identify the genetic basis of retinal dystrophies in consanguineous Pakistani families. We recruited two families with...
