A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

Background: Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene.

Objective: The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers.

Genetic association study of ERBB4 SNP rs1351592 with polycystic ovary syndrome in Pakistani population.

Polycystic ovary syndrome (PCOS) is an oligogenic condition characterised by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Previously, European and Han Chinese populations identified different susceptibility loci, of which ERBB4 (rs1351592) was strongly associated with PCOS. Our study aimed to investigate the association of ERBB4 Single Nucleotide Polymorphism (SNP), rs1351592 with PCOS in Pakistani women of Hazara region.

The First Report of a Missense Variant in Causing Non-Syndromic Tooth Agenesis in a Consanguineous Pakistani Family.

The syndromic and non-syndromic congenital missing teeth phenotype is termed tooth agenesis. Since tooth agenesis is a heterogeneous disorder hence, the patients show diverse absent teeth phenotypes. Thus identifying novel genes involved in the morphogenesis of ectodermal appendages, including teeth, paves the way for establishing signaling pathways.

Antidiabetic and Hypolipidemic Potential of Green AgNPs against Diabetic Mice.

Green nanotechnology-based approaches have been acquired as environmentally friendly and cost effective with many biomedical applications. The present study reports the synthesis of silver nanoparticles (AgNPs) from the leaves of characterized by UV-Vis spectroscopy, EDX, SEM, AFM, and XRD. The acute and chronic antidiabetic and hypolipidemic potential of AgNPs was studied in alloxan-induced diabetic mice.

A novel deletion mutation in underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.

Lafora body disease (MIM-254780), a glycogen storage disease, characterized by Lafora bodies (deformed glycogen molecules) accumulating in multiple organs, is a rare form of myoclonic epilepsy. It manifests in early adolescent years, initially with seizures and myoclonus, followed by dementia and progressive cognitive decline, ultimately culminating in death within 10 years. In Pakistan so far 5 cases have been reported.

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.

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 in nucleotide excision repair (NER) pathway have been reported to cause the XP.

Methods And Results: Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level.

Prevalence of potential drug-drug interactions in breast cancer patients and determination of their risk factors.

Breast cancer patients use numerous medications, which include cytotoxic chemotherapy drugs, hormonal agents and supportive medication, so they are more vulnerable to potential adverse drug interactions. This study aimed to evaluate frequency, severity, clinical importance and risk factors responsible for the Drug-drug interactions (DDIs) in a cohort of patients suffering from breast cancer. Data was obtained from 150 patients in the oncology ward (both inpatient and outpatient) with a confirmed diagnosis of breast cancer and currently receiving standard breast cancer-directed treatment.

Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.

Background: Hypohidrotic ectodermal dysplasia (HED) is a congenital anomaly characterized by hypohydrosis, hypotrichosis and hypodontia. Mutations in at least four genes (EDAR, EDARADD, WNT10A, TRAF6) have been reported to cause both autosomal recessive and autosomal dominant forms of HED. Mutations in two other genes (EDA and IKBKG) have been reported to cause X-linked HED.

Sequence Variants in the and Genes Underlying Isolated Split-Hand/Split-Foot Malformation.

Split-hand/split-foot malformation (SHFM) is a developmental and congenital limb malformation characterized by variable degrees of medial clefting or absence of one or more digits in hands and/or feet. The aim of this study was to identify the underlying cause of three consanguineous Pakistani families showing various types of SHFM-related features. Standard molecular methods, including whole-genome sequencing (WGS), whole-exome sequencing (WES), microsatellite markers-based genotyping, and Sanger sequencing were performed to search for the likely causative variants.

A Novel Missense Variant in the Gene Underlies Mild to Severe Frontonasal Dysplasia in a Consanguineous Family.

Frontonasal dysplasia (FND) is a rare developmental disorder characterized by mild to severe changes in skull and brain structures. It is a phenotypically variable and heterogeneous disorder. This study was designed to provide a clinical and genetic analysis of FND in a consanguineous family of Pakistani origin.

Effect of endophytic Bacillus megaterium colonization on structure strengthening, microbial community, chemical composition and stabilization properties of Hybrid Pennisetum.

Background: This study was conducted to analyze the effects of endophytic Bacillus megaterium (BM 18-2) colonization on structure strengthening, microbial community, chemical composition and stabilization properties of Hybrid Pennisetum.

Results: The BM 18-2 had successfully colonized in the interior tissues in both leaf and stem of Hybrid Pennisetum. During ensiling, the levels of pH, acetic acid (AA), butyric acid (BA), propionic acid (PA), and the population of yeast and aerobic bacteria were significantly (P > 0.

Biological and biochemical characteristics of male reproductive system, serum metabolites and carcass quality of Japanese quails by the supplementation of Pinus ponderosa leaves and α-tocopherol acetate.

The aim of the current study was to evaluate the effect of dietary supplementation of Pinus ponderosa leaves (pine leaves) and α-tocopherol acetate (vitamin E) powder on male reproductive system, serum metabolites and carcass characteristics of Japanese quails. A total of 360-day-old male quails were purchased from the open market and kept at poultry shed for ninety-four days. After ten days of adaptation, all quails were randomly assigned into 4 groups, control (IC); supplemented with α-tocopherol acetate (IE) at the rate of 150 mg/L; Pinus ponderosa leaves (IP) at the rate of 150 mg/L; and 70 mg α-tocopherol acetate and 70 mg Pinus ponderosa leaves (IEP).

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.

Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern.

Evaluation of diabetes awareness among general population of Bahawalpur, Pakistan.

Aims: To evaluate diabetes awareness among general population of Bahawalpur, Pakistan.

Methods: A questionnaire based descriptive cross sectional study was performed during 2014. Descriptive and inferential statistics were applied using the IBM Statistical Package for Social Sciences version 20.

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.

Background: Postaxial polydactyly (PAP) type A is characterised by well-formed functionally developed 5th digit duplication in hands and/or feet. It is genetically heterogeneous condition, inherited both in autosomal recessive and dominant manners. To date one autosomal recessive and four autosomal dominant loci have been mapped on human chromosomes.

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes.

Postaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the presence of rudimentary fifth digit, have been described. Both isolated and syndromic forms of PAP have been reported.

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.

Background: Autosomal recessive hypotrichosis/woolly hair is a rare genetic hair loss disorder characterized by sparse scalp hair/woolly hair, sparse to absent eyebrows and eyelashes, sparse axillary and body hair in affected individuals. This form of hair loss results from mutations in either LPAR6 or LIPH gene.

Aim: To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair.

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to the region was established by carrying out genome-wide linkage scans in two unrelated, consanguineous Pakistani families segregating ARNSHI.

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

Background: Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by skeletal, ectodermal and cardiac defects. This syndrome is caused by mutations in EVC and EVC2 genes, which are separated by 2.6 kb of genomic sequence on chromosome 4p16.