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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
BackgroundIntellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive...
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A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
BackgroundX-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal,...
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Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss
Hearing loss is the most common sensory neural disorder in humans, and according to a WHO estimation, 5.5% (466 million) of people worldwide have...
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Unraveling the Genetic Associations of DENND1A (rs9696009) and ERBB4 (rs2178575) with Infertile Polycystic Ovary Syndrome Females in Pakistan
Polycystic Ovary Syndrome (PCOS) is a complex genetic disorder in reproductive-aged women which is associated with comorbidities of reproductive,...
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion...
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Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain
Interleukin 2 receptor alpha chain (IL-2Rα or CD25) deficiency (OMIM #606367) is an immune dysregulation disorder segregating in autosomal recessive...
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Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
Polydactyly is the most common limb malformation that occurs in 1.6–10.6 per one thousand live births, with incidence varying with ancestry. The...
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The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women
BackgroundUK national guidelines suggest women at high-risk of breast cancer should be offered more frequent screening or preventative medications....
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Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients
BackgroundThe RecQ Like Helicase ( RECQL ) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular...
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Elucidating the Molecular Genetics of Genes CYP19A1, CYP17, and FSHR Variants Association in Polycystic Ovarian Syndrome
AbstractAssociation of genes CYP19A1 (rs2414096), CYP17 (rs743572) and FSHR (rs2268361) variants on the susceptibility of develo** PCOS was...
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Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
Intellectual disability (ID) represents an extremely heterogeneous group of disorders, characterized by significant limitations in intellectual...
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Exploration of shared genetic susceptibility loci between type 1 diabetes and rheumatoid arthritis in the Pakistani population
ObjectiveType 1 diabetes (T1D) and rheumatoid arthritis (RA) are autoimmune diseases. It is known that certain genetic loci and factors that increase...
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Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan
The Fanconi anemia complementation group M ( FANCM ) gene is a potential candidate for breast/ovarian cancer susceptibility in European populations....
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Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome
Cenani-Lenz syndrome (CLS) is a rare autosomal-recessive congenital disorder affecting development of distal limbs. It is characterized mainly by...
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Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report
BackgroundConsanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive...
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Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models
AbstractPrimary microcephaly is a rare, congenital, and genetically heterogeneous disorder in which occipitofrontal head circumference is reduced by...
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Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery
Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection...
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Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
BackgroundPathogenic germline mutations in BRCA1 and BRCA2 ( BRCA1/2 ) account for the majority of hereditary breast and/or ovarian cancers worldwide....
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Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population
BackgroundColorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1 ) mutations, WNT signaling activation , ...
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Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussion
While the prevalence of genetic disorders has been well documented in the Muslim-majority, low-socioeconomic country of Pakistan, the provision of...
