A5036555220- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Bipolar Disorder and Treatment
- Genetic Associations and Epidemiology
- Microtubule and mitosis dynamics
- Genetic and Kidney Cyst Diseases
- Endoplasmic Reticulum Stress and Disease
- Cancer, Lipids, and Metabolism
- RNA regulation and disease
- Hereditary Neurological Disorders
- Retinoids in leukemia and cellular processes
- Cancer-related Molecular Pathways
- Genetic Syndromes and Imprinting
- Prostate Cancer Diagnosis and Treatment
- Psoriasis: Treatment and Pathogenesis
- Ocular Disorders and Treatments
- Epigenetics and DNA Methylation
- Circadian rhythm and melatonin
- Total Knee Arthroplasty Outcomes
- Stress Responses and Cortisol
- Child and Adolescent Psychosocial and Emotional Development
- Cholesterol and Lipid Metabolism
- Sleep and related disorders
COMSATS University Islamabad
2015-2025
University at Buffalo, State University of New York
2024-2025
Pakistan Institute of Medical Sciences
2022
Radboud University Nijmegen
2013-2018
Radboud University Medical Center
2013-2018
Radboud Institute for Molecular Life Sciences
2015
International Islamic University, Islamabad
2014
Abstract Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1–3% of the general population. Although research into genetic causes ID has recently gained momentum, identification pathogenic mutations that cause autosomal recessive (ARID) lagged behind, predominantly due to non-availability sizeable families. Here we present results exome sequencing in 121 large consanguineous Pakistani In 60 families, identified homozygous or compound heterozygous...
Novel denovo variants of exome sequences are major cause pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome Gabriele-de-Vries congenital neuro-impairments overlap severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism faces, retinal diseases, movement autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein...
Background: Monoamine oxidase A (MAOA) has a role in metabolising different biogenic amines, including dopamine. Functional studies have revealed the effect of promoter region variants on transcriptional activity MAOA that consequently affects homeostasis amines which might implicate aetiology multiple psychiatric conditions. Objectives: The current study aimed to determine influence 30 base pair (bp), variable number tandem repeats (VNTR) MAOA, its serum levels and association with...
Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals ID identified novel genes implicated in the disease. Therefore purpose present study was to identify genetic cause one syndromic and two non-syndromic Pakistani families. Whole three probands sequenced. Missense variations plausible autosomal recessive were identified: lysine (K)-specific methyltransferase 2B (KMT2B), zinc finger protein 589 (ZNF589), as well...
The RTTN gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization has recently been associated with the appearance of microcephaly syndromes. RTTN-related neurological defects including microcephaly, intellectual disability, congenital dwarfism, ophthalmic manifestations, epilepsy are mainly due to abnormal brain development pathways loss-of-function protein mutations. We present a consanguineous Pakistani family clinically suspected Seckel syndrome...
Approximately 1% of the global population is affected by intellectual disability (ID), and majority receive no molecular diagnosis. Previous studies have indicated high levels genetic heterogeneity, with estimates more than 2500 autosomal ID genes, which are recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani Iranian...
Structural reorganization of chromosomes by genomic duplications and/or deletions are known as copy number variations (CNVs). Pathogenic and disease susceptible CNVs alter gene dosage its phenotypic expression that often leads to human genetic diseases including Neurological disorders. affecting same common genes in multiple neurodevelopmental disorders can better explain the shared clinical aetiology across brain diseases. Our study presents novel a cohort five multiplex consanguineous...
Background: Neurodevelopmental disorders of genetic etiology are a highly diverse set congenital recurrent complications triggered by irregularities in the basic tenets brain development. Methods: We present whole exome sequencing analysis and expression characteristics probands from four unrelated Pakistani consanguineous families with facial dysmorphism, neurodevelopmental, ophthalmic, auditory, verbal, psychiatric, behavioral, dental, skeletal manifestations otherwise unexplained clinical...
Background: The dopaminergic pathways control neural signals that modulate mood and behaviour along have a vital role in the aetiology of major depression (MDD), schizophrenia (SHZ) bipolar disorder (BD). Genome-wide association studies (GWAS) reported several cognitive pathway genes with these disorders however, no such comprehensive data was available regarding Pakistani population.Objective: present study conducted to analyse 11 genetic variants system MDD, SHZ, BD population.Methods: A...
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental that affects about 1 in 36 children the United States, imposing enormous economic and socioemotional burden on families communities. Genetic studies of ASD have identified de novo copy number variants (CNVs) point mutations contribute significantly to genetic architecture, but majority these were conducted populations unsuited for detecting autosomal recessive (AR) inheritance. However, several consanguineous towards...
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Summary This report is regarding a Dutch female with microcephaly, mild intellectual disability (ID), gonadal dysgenesis and dysmorphic facial features synophrys. Upon genotyping, an ~455 kb de novo deletion encompassing the first exon of NRXN1 was found. Bidirectional sequencing coding exons alpha isoform subsequently performed to investigate possibility pathogenic mutation on other allele, but we could not find any mutation. Previously, many heterozygous mutations as well microdeletions in...