A5021872175- Congenital limb and hand anomalies
- Hedgehog Signaling Pathway Studies
- Genomic variations and chromosomal abnormalities
- Wnt/β-catenin signaling in development and cancer
- Genomics and Rare Diseases
- Connective tissue disorders research
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Digestive system and related health
- Growth Hormone and Insulin-like Growth Factors
- Genomics and Chromatin Dynamics
- Hearing, Cochlea, Tinnitus, Genetics
- Vestibular and auditory disorders
- Skin and Cellular Biology Research
- Trypanosoma species research and implications
- Metabolism and Genetic Disorders
- Renal and related cancers
- DNA Repair Mechanisms
- Cancer-related Molecular Pathways
- Cleft Lip and Palate Research
- Glycosylation and Glycoproteins Research
- RNA regulation and disease
- Genetic factors in colorectal cancer
COMSATS University Islamabad
2020-2024
Quaid-i-Azam University
2021-2024
Hospital de São João
2023
Neurodevelopmental disorders are characterized by different combinations of intellectual disability (ID), communication and social skills deficits, delays in achieving motor or language milestones. SLITRK2 is a postsynaptic cell-adhesion molecule that promotes neurite outgrowth excitatory synapse development.
Hereditary hearing loss is a genetically heterogeneous neurosensory disorder that affects many people. Deafness and infertility can coexist in some cases, creating the impairment infertile male syndrome. There are several known molecular mechanisms cause deafness either on its own or conjunction with infertility.
Abstract Polydactyly is a very common digit anomaly, having extra digits in hands and/or toes. Non‐syndromic polydactyly both autosomal dominant and recessive forms are caused by disease‐causing variants several genes, including GLI1 , GLI3 ZNF141 FAM92A IQCE KIAA0825 MIPOL1 STKLD1 PITX1 DACH1 . Whole exome sequencing (WES) followed bi‐directional Sanger was performed for the single affected individual (II‐1) of family to reveal disease causative variant/gene. 3D protein modeling structural...
Abstract Background GLI3 is a transcriptional regulator of several genes involved in mammalian skeletal development. Mutations the pleiotropic gene may result different inherited disorders including Greig cephalopolysyndactyly syndrome (GCPS). GCPS characterized by mild to severe craniofacial and limb malformations. Methods Results Here, we report clinical molecular study 3 families with originated regions Pakistan. Sanger sequencing revealed two novel variants frameshift [c. 3790_3791InsC,...
Genetic skeletal disorders (GSDs) are a large group of rare heterogeneous characterized by abnormal development, remodeling, and growth the human skeleton's cartilage bones. GSDs have high spectrum phenotypes that range from disproportionate short stature (dwarfism) in childhood to osteoarthritis old age. According latest nosology classification dysplasias, 461 under 42 groups classified according specific radiographic, clinical, molecular standards. In addition, correct diagnosis...
Abstract A family of Pakistani origin, segregating polydactyly, and phalangeal synostosis in an autosomal dominant manner, has been investigated presented the present report. Whole‐exome sequencing (WES), followed by segregation analysis using Sanger sequencing, revealed a heterozygous missense variant [c.G1696A, p.(Gly566Ser)] LRP4 gene located on human chromosome 11p11.2. Homology protein modeling mutant Ser566 generated new interactions with at least four other amino acids disrupted...
Abstract Orofaciodigital syndrome (OFD) is clinically heterogeneous and characterized by abnormalities in the oral cavity, facial features, digits, central nervous system. At least 18 subtypes of condition have been described literature. OFD caused variants several genes with overlapping phenotypes. We studied a consanguineous Pakistani family two affected siblings an atypical form type 4 (OFD4). In addition to typical features OFD4 that include limb defects growth retardation, displayed...
Isolated syndactyly is a common limb malformation with limited known genetic etiology. We used exome sequencing to discover novel heterozygous missense variant c.2915G > C: p.Arg972Pro in AFF3 on chromosome 2q11.2 family isolated hands and feet. belongs of nuclear transcription activating factors involved dorsoventral patterning. The Arg972Pro located near the C terminus, region that yet be associated human disorders. Functional studies did not show difference stability or subcellular...
Abstract Skeletal dysplasias are a heterogeneous group of disorders presenting mild to lethal defects. Several factors, such as genetic, prenatal, and postnatal environmental may contribute reduced growth. Fourteen families Pakistani origin, the syndromic form short stature either in autosomal recessive or dominant manner were clinically genetically investigated uncover underlying genetic etiology. Homozygosity mapping, whole exome sequencing, Sanger sequencing used search for...
Abstract Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of on the scalp and rest body. In few cases, accompanied appearance keratotic papules It inherited in an autosomal recessive manner. Sequence variants HR (hairless) gene are responsible for this abnormality. Here, we present nine consanguineous families one nonconsanguineous family clinical manifestations APL. Whole exome followed Sanger sequencing and/or direct was performed to identify pathogenic...
Osteogenesis imperfecta (OI) is a heritable genetic disorder characterized by osteoporosis, severe bone fragility and reduced mineral density. It mostly caused mutations in genes, such as collagen type I alpha 1 chain (<em>COL1A1</em>) 2 (<em>COL1A2</em>), which are responsible for synthesizing collagen. Of note, 90% of cases OI dominantly inherited <em>COL1A1</em> or <em>COL1A2</em>, while only 10% 23 recessive genes. The present review summarizes the genes associated with different types...
Background: Polydactyly is one of the most common hereditary limb malformations, characterized by presence additional digits in hands and/or feet. It present either isolated form or combination with other features. Preaxial polydactyly extra digit on outside thumb big toe, and postaxial little finger toe are two main forms polydactyly. Methods Results: In study, unrelated consanguineous families segregating PAP an autosomal recessive manner were investigated. Whole exome sequencing, followed...
ABSTRACT Limb abnormalities are the second most frequent birth defects seen in infants, after congenital heart disease. Over past 150 years, more than 50 classifications for limb malformations based on morphology and osseous anatomy have been presented. The goal of current study is to investigate genetic basis Pakistani population. Eight families, presenting different forms anomalies, including syndactyly, polydactyly, synpolydactyly, ectrodactyly an autosomal dominant manner, were...
Abstract Background Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved nucleotide excision repair (NER) pathway have been reported to cause the XP. Methods Results Three large consanguineous families Pakistani origin displaying typical hallmarks XP were evaluated at molecular level. Homozygosity mapping using microsatellite markers established linkage XPC gene on...
Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intellectual disability dysmorphic features, epilepsy, and other severe anomalies. Methods: Molecular diagnosis was performed using whole exome sequencing (WES) followed Sanger sequencing. Results: WES revealed novel homozygous nonsense variant (c.250C&gt;T;...
Sequence variants causing SHFM. None. The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/cge.14430. Data will be upon request.