title: Genetics of human isolated acromesomelic dysplasia.
abstract: Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia. In the present review, we have discussed clinical spectrum, genetics and signalopathies of isolated acromesomelic dysplasias.
authors.affiliation: Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan; Genomic Core Facility, Translational Research Institute, Hamad Medical Corporation, Doha, Qatar. Electronic address: saadkhanwazir@gmail.com.
authors.forename: Saadullah
authors.initials: S
authors.lastname: Khan
authors.affiliation: Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawarah, Saudi Arabia.
authors.forename: Sulman
authors.initials: S
authors.lastname: Basit
authors.affiliation: Genomic Core Facility, Translational Research Institute, Hamad Medical Corporation, Doha, Qatar; Gomal Centre of Biochemistry & Biotechnology, Gomal University D.I.Khan, Pakistan.
authors.forename: Muzammil Ahmad
authors.initials: MA
authors.lastname: Khan
authors.affiliation: Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
authors.forename: Noor
authors.initials: N
authors.lastname: Muhammad
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics* / Q000503:physiopathology; D055428:Growth Differentiation Factor 5 / Q000235:genetics*; D006801:Humans; D009139:Musculoskeletal Abnormalities / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D017461:Receptors, Atrial Natriuretic Factor / Q000235:genetics*; D000099242:Atrial Natriuretic Factor Receptor B
chemical_list: D052005:Bone Morphogenetic Protein Receptors, Type I; D055428:Growth Differentiation Factor 5; D017461:Receptors, Atrial Natriuretic Factor; D000099242:Atrial Natriuretic Factor Receptor B; C525893:GDF5 protein, human; C498214:BMPR1B protein, human
keywords: Acromesomelic dysplasia; BMPR1B; Clinical spectrum; Disease causing mutations; GDF5; NPR2