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Advances in Molecular Electronics: a Brief Review Open Access Journal of Biomedical Science and Research Volume 1 Issue 1 Research Article Genetic Skeletal Disorders in Pakistan: A brief Commentary Ahmad Fa, Bilal Mb, Khan Ac and Umair Mb* aDepartment of Biochemistry, Quaid-i-Azam University, Faculty of Biological Sciences, Islamabad, Pakistan bDepartment of Medical Genomics, King Saud bin Abdul-Aziz University for Health Sciences, Saudi Arabia cDepartment of Developmental Medicine, King Saud bin Abdul-Aziz University for Health Sciences, Saudi Arabia Article Info Abstract Article History: Genetic skeletal disorders (GSDs) constitute a heterogeneous, rare and a distinctive group Received: 03 January, 2019 Accepted: 27 February, 2019 of rare bone growth disorders, leading to abnormal size and shape of the skeleton. Published: 05 December, 2019 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 * Corresponding author: Umair “Nosology and Classification of Genetic Skeletal Disorders: [1] using to-date literature M, Department of Medical Genomics, King Saud bin Abdul-Aziz published in different data-bases. The most recurrently reported skeletal disorders in University, Ministry of National Pakistan include acromesomelic dysplasia (AMDM, AMDG, AMDH), Polydactyl, Guard-Health Affairs, P.O.Box 3660, Mucopolysaccharidosis, Split hand/Split foot malformation (SHFM), synpolydacyly, Riyadh 11481, Saudi Arabia; Tel: accounting for 56.32% of the total cases. Disorders from nineteen different groups listed in +92-314-5065505; E-mail: [email protected], the “Nosology and Classification of Genetic Skeletal Disorders [1] have not been reported [email protected] 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 disorders in Pakistan, helping diagnosis and proper disease management. The review also highlighted the need to create a multi-level national network (database) that could help to provide proper molecular diagnosis and care to the patients suffering from severe GSDs in Pakistan. Keywords: Genetic skeletal disorders; Rare genetic diseases; Pakistan Copyright: © 2019 Ahmad F, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. have been not been performed yet. Most GSDs are reported as Introduction familial cases in the literature having both autosomal dominant Genetic skeletal disorders (GSDs) constitute a diverse, and autosomal recessive inheritance, which is common in heterogeneous, and austere group of rare bone growth disorders, Pakistani population. which arise due to disturbances in the skeletal development processes, growth, pathways, and homeostasis caused by Skeletal dysplasias mutations in different genes involved in the development of the Skeletal dysplasias are clinically and genetically heterogeneous skeletal system. The proper disease diagnosis is a challenge for bone and cartilages growth disorder, which result in abnormal size GSDs as syndromic and non-syndromic forms of GSDs affects and shape of the skeletal system. Skeletal dysplasia’s are also many individuals, thus leading to high health cost and poor quality defined as a generalized abnormality in the skeleton (from the of life [2-13]. Greek word, skeleton meaning “dried up”, mostly associated with The “Nosology and Classification of Genetic skeletal disorders linear skeletal abnormality and having a prevalence of 1/5000 live [1]” listed 436 different GSDs classified into 42 different groups birth [14]. Skeletal disorders in syndromic forms are associated using clinical, radiographic, and molecular diagnostics standards with other organs abnormalities, which result from teratogen and mutations were reported in only 364 different genes [1]. The exposure, somatic mosaicism and imprinting errors. GSDs are Nosology skeletal disorder classification provides an excellent inherited as autosomal dominant/recessive, X-linked guideline for diagnosis and identification of novel skeletal (recessive/dominant), or can be inherited as a denovo entity [15]. disorders for researchers, and also help to better understand the GSDs are mostly classified based on pattering abnormalities, mechanisms underlying these genetic mutations, proteins and linear development, differentiation, and maintenance of the human different pathways involved in skeletal development. Population- skeleton [16]. The last revision of the International Skeletal based studies in Pakistan to determine the prevalence of GSDs Dysplasia Society (ISDS) was performed in 2015 to classify the Pubtexto Publishers | www.pubtexto.com 1 J Biomed Sci Res Citation: Ahmad F, Bilal M, Khan A, Umair M (2019). Genetic Skeletal Disorders in Pakistan: A brief Commentary. J Biomed Sci Res 1(1): 101 newly reported genes/disorders, which revealed new molecular Cartilage-hair hypoplasia 4 0 and pathological concepts associated with GSDs. This revision Cenani-Lenz syndactyly syndrome with oro-facial 12 30 cases was reviewed by [1]. Classified total 436 disorders into 42 and skeletal symptoms different groups on the basis of genetic, radiographic, molecular, Chondrodysplasia 24 18 cases (1BP) and biochemical criteria’s. For these 436 disorders mutations in Ellis–van Creveld syndrome 11 1.1BP only 364 genes were identified at that time. The present study Frontonasal dysplasia 8 28 (0.7BP) Infantile GM1 systematically reviewed GSDs reported in Pakistani population 1 330 cases (0.75) gangliosidosis illustrated in different online databases to-date. The review also Infantile malignant 2 0.75BP analyzed and highlighted the challenges involved in proper osteopetrosis diagnosis and treatment of these severe GSDs. Joubert Syndrome 6 33 (1.125BP) Marfan syndrome 14 25 Methodology Meckel syndrome 3 3 4.0BP Mucopolysaccharidosis 31 19 cases (15.0BP) Study basis Multiple hereditary 24 0 The present investigation covered all 436 genes reported to cause exostoses Osteoarthropathy, GSDs that has been classified into 42 groups in the “Nosology 4 30 cases and Classification of GSDs [1]. hypertrophic Osteogenesis Imperfecta 10 54 (10.0 BP) Bata bases used Osteopetrosis 4 140 (1.0BP) A literature search using different online available database was Polydactyly 64 278 conducted such as PubMed Polydactyly and mesoaxial (https://www.ncbi.nlm.nih.gov/pubmed), Pub plus synostotic syndactyly with 11 6 families phalangeal reduction (http://www.pubplus.org/), Google scholar Pseudoachondroplasia 17 3.3BP (https://scholar.google.com/), OMIM (https://www.omim.org), Roberts syndrome 2 150 cases HGMD (http://www.hgmd.cf.ac.uk/) and research gate SHFM 68 22 (5.4BP) Spondyloepiphyseal (https://www.researchgate.net/). Pakistan Genetic Mutation 13 36 (1BP) dysplasia Database (http://pakmutation.com/) is the only database available Synpolydactyly 79 0 for the mutations reported within Pakistani population Temtamy preaxial 2 18 cases corresponding rare genetic disorders. brachydactyly syndrome Trichorhinophalangeal Search approach 13 200 cases All the genes reported to-date causing skeletal disorders were syndrome type III Total 490 obtained from the “Nosology and Classification of GSDs [1].” The search was made by typing the mesh “gene name Pakistan” using The geographic distribution of GSDs in Pakistan is presented in different search engines such as PubMed, Google scholar, OMIM, Figure 1. GSDs have been reported in all the provinces of HMGD and research gate. Pakistan. However, more patients were reported from the Sindh province of Pakistan (41.42%). Details regarding a number of Results disorders reported from each province have been presented in A total of 490 cases having genetic skeletal disorders in the 19 Table 3. groups of the “Nosology and Classification of GSDs [1]” were reported from Pakistan in the current literature available. All the Discussion cases and mutations reported so far from Pakistan has been Genetic skeletal disorders (GSDs) are a highly heterogeneous documented in Table 1 and Table 2. The five most frequently group of disorders that arise as a result of cartilage or bone growth reported GSDs were Acromesomelic dysplasia (AMDM, AMDG, abnormality. It has been reported in X-linked AMDH), Mucopolysaccharidosis, Polydactyly, SHFM, (dominant/recessive) and autosomal (recessive/dominant) forms Synpolydactyly, accounting for 56.32% of cases (Table 3). and in both syndromic (severe) and non-syndromic forms (mild- severe). Proper diagnosis is very important for the management Table 1: Number of published cases of genetic skeletal diseases in and treatment of these genetic disorders such as family history, Pakistan compared to Orphadata Europe 2018 (www.orphadata.org). complete medical records, photographs/radiographs, MRI Cases Cases reported (additional neurological phenotypes), audiograms etc. Pakistan as Genetic Skeletal Disorders reported and prevalence the world’s 33rd largest country with respect to the area (881913sq- (GSDs) from Europe/100,000 Pakistan km), having five provinces
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