Genetic skeletal disorders in Pakistan: A brief commentary

Publication date: Available online 5 March 2019Source: Meta GeneAuthor(s): Farooq Ahmad, Muhammad Bilal, Amjad Khan, Muhammad UmairAbstractGenetic skeletal disorders (GSDs) constitute a heterogeneous, rare and a distinctive group of rare bone growth disorders, leading to abnormal size and shape of the skeleton. Prevalence, mutation spectrum and geographic distribution of genetic skeletal disorders (GSDs) in Pakistan are not known. The present study reviewed different GSDs, listed in the “Nosology and Classification of Genetic Skeletal Disorders: (2015 Revision)” using to-date literature published in different data-bases. The most recurrently reported skeletal disorders in Pakistan include acromesomelic dysplasia (AMDM, AMDG, AMDH), Polydactyly, Mucopolysaccharidosis, Split hand/Split foot malformation (SHFM), synpolydacyly, accounting for 56.32% of the total cases. Disorders from nineteen different groups listed in the “Nosology and Classification of Genetic Skeletal Disorders (2015 Revision)” have not been reported from Pakistani population. Most of the publication came from University and research institutes, while very minimal was done by the hospitals. In most of the cases, mutations were identified using next-generation sequencing technologies. In total, mutations in 45 genes causing nineteen different GSDs were reported from Pakistani population in the literature to-date. The current data will help clinicians and researchers working in the field of rare skeletal...
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research