Showing papers by "Dost Muhammad published in 2018"

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type

Abstract: Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter-Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7.78 Mb homozygous region on chromosome 4q22.3, which harbors BMPR1B. Sequence analysis of the gene revealed a novel homozygous missense variant (c.1190T > G, p.Met397Arg) that segregates with the disease phenotype within the family and produced a Logarithm of odds (LOD) score of 3.9 with the disease phenotype. This study reports on the first familial case of acromesomelic dysplasia Hunter-Thompson type. It is also the first report of BMPR1B underlying the etiology of acromesomelic dysplasia Hunter-Thompson type.

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Abstract: Autosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400) syndrome is characterized by diffused congenital ichthyosis and generalized non-scarring hypotrichosis. The underlying genetic cause ofARIHsyndrome has been associated with sequence variants of the gene ST14, encoding type II transmembrane serine protease matriptase, which maps to chromosome 11q24.3. The current report aimed to investigate the clinical features and genetic cause of ARIH syndrome in a large consanguineous family of Pakistani origin. The technique of homozygosity mapping with highly polymorphic microsatellite markers was employed to establish linkage within the family. Sanger sequencing of exons and intron-exon boundaries of ST14 was performed to identify the potential pathogenic sequence variants, followed by structural analysis of the mutated protein. Linkage was established to chromosome 11q24.3, comprising the gene ST14. Sequence analysis led to the identification of a novel homozygous missense variant (c.1315G>A, p.Gly439Ser) in the ST14 gene that co-segregated with the disease phenotype in all affected members. Homology modelling and molecular docking analysis of ST14 with wild-type TMEFF1 protein was performed which revealed that glycine at position 439 is crucial for maintaining normal structural confirmation and interaction with the EGF domain of TMEFF1 protein. Taken together, the data strongly advocate this ST14 variant as the underlying genetic cause of ARIH syndrome in this first reported affected family from Pakistan. Moreover, the present study adds to the spectrum of mutations in the ST14 gene, implicating them in the pathogenesis of ARIH syndrome.

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.

Abstract: F. Ahmad, K. Shah, M. Umair, A. Jan, Irfanullah, S. Khan, D. Muhammad, S. Basit, S. M. Wakil, K. Ramzan and W. Ahmad Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology [KUST], Kohat, Khyber Pakhtunkhwa, Pakistan; Chandka Medical College, Shaheed Mohtarma Benazir Bhutto Medical University, Larkana, Sindh, Pakistan; Center for Genetics and Inherited Diseases, Taibah University Al Madinah Al Munawarah, Medina, Saudi Arabia; and Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Spatial variability pattern and mapping of selected soil properties in hilly areas of Hindukush range northern, Pakistan

Abstract: Soil samples at 0-20 cm depth were collected from major crop areas of Hindukush mountainous range, District Chitral, extreme Northwestern Pakistan, during April 2014 to assess their physico-chemical properties and spatial distribution pattern. 103 soil samples were analyzed and maps were created by geostatistical technique of inverse distance weighting and kriging techniques using GIS and GS win-7 computer software. The soil texture ranged from silt loam to dominantly sandy loam, slightly acidic to alkaline and moderate to highly calcareous but with no salinity indication. Soil organic matter was higher than 2 % in about 75 % of samples. Soil pH, EC and lime showed slight dependence on each other with r values from 0.4 to 0.5 while OM varied independently as indicated by their lower correlation values. Semivariogram analysis showed that soil pH, lime, OM had strong spatial dependence (nugget-sill ratio, <25%) while silt, sand, EC had moderately (nugget-sill ratio, 25-75%) and clay had weakly distributed in the area. Linear, Gaussian and exponential models were used for different soil parameter based on nugget, mean prediction error and root mean square standardize prediction error values and maps were developed through extension techniques to cover all the area outside the sampling points.

Effect of Different Levels of Nitrogen on Yield of Colocasia (Colocasia esculenta) at District Malakand Dargai

Abstract: A field experiment was conducted to evaluate the response of colocasia (Colocasia esculenta) to different levels of 0, 60, 90, 120 and 150 kg N ha-1 under farmer’s field condition at Garhi Usmani Khel, District Malakand Dargai during 2013. The experiment was laid out in Randomized Complete Block design with three replications and treatment plot size of 2.74 × 2.43 m2. All levels of N in the form of urea along with uniform basal doze of 90 kg P2O5 ha-1 as Triple Super Phosphate (TSPPP) were applied to soil at time of seed bed followed by thorough mixing. Seeds of colocasia c.v. local variety were sown in these plots with row spacing of 30 cm and plant to plant distance of 12 cm in February, 2013. The results showed that application of N produced significantly higher colocasia tuber yield, number of tubers plant-1, 1000-tubers weight and size of tubers (mean length and diameter) over control but the differences among levels of N were nonsignificant. However, some parameters like tuber yield was maximum at 60 kg N ha-1 and tuber size especially the length of colocasia tuber was maximum at 150 kg N ha-1 suggesting that the response of each parameter was different to N levels. Based on maximum relative yield (100%) and increase over control (46.1%) still at lower N levels of 60 kg N ha-1, this level seems to be appropriate level for colocasia under the prevailing soil and climatic conditions.