Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population | Khan | Pakistan Journal of Medical Sciences
 
مبل راحتی صندلی مدیریتی صندلی اداری میز اداری وبلاگدهی گن لاغری بازی اندروید تبلیغات کلیکی آموزش زبان انگلیسی پاراگلایدر مارکت اندروید تور آهنگ محسن چاوشی مسیح و آرش پروتز سینه پروتز باسن پروتز لب میز تلویزیون

Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population

Samiullah Khan, Muhammad Mudassir, Naqab Khan, Asmat Ullah Marwat

Abstract


Objectives: Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family.

Methods: Poly Acrylamide Gel Electrophoresis and Polymerase Chain Reaction was used for the genomic screening and linkage analysis to observe the mutation in genes. The samples were collected from Luckki Marwat district, KPK, while the research study was conducted in the department of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.

Results: After survey, family was identified with brachdactyly type A2 and investigated a heterozygous arginine to glutamine exchange in the growth demarcation factor 5 in all the victim persons. Different types of skeletal dysplasia resulted due to mutation in the GDF5 genes. Novel GDF5 genes mutations were reported with distinct limb malformation and sequencing of coding region revealed that the mildly affected individuals were heterozygous while the harshly affected individuals were homozygous.

Conclusion: The current study reported the genetic variability and concluded that the Brachdacytyly type A2 and type B2 resulted due to mutation in GDF5 and NOG genes respectively. A new subtype of brachydactyly (BDB2) was instigated as a result of novel mutations in NOG. The mutation has been reported for the first time in Pakistani population and especially in Pushtoon ethnic population.

doi: https://doi.org/10.12669/pjms.341.12885

How to cite this:Khan S, Mudassir M, Khan N, Marwat A. Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population. Pak J Med Sci. 2018;34(1):82-87.   doi: https://doi.org/10.12669/pjms.341.12885

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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