2. Academic Validation
  3. Genetics of human isolated acromesomelic dysplasia

Genetics of human isolated acromesomelic dysplasia

  • Eur J Med Genet. 2016 Apr;59(4):198-203. doi: 10.1016/j.ejmg.2016.02.011.
Saadullah Khan 1,  Sulman Basit 2,  Muzammil Ahmad Khan 3,  Noor Muhammad 4,  Wasim Ahmad 5
Affiliations

Affiliations

  • 1 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: [email protected].
  • 2 Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawarah, Saudi Arabia.
  • 3 Genomic Core Facility, Translational Research Institute, Hamad Medical Corporation, Doha, Qatar; Gomal Centre of Biochemistry & Biotechnology, Gomal University D.I.Khan, Pakistan.
  • 4 Department of Biotechnology & Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
  • 5 Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Pakistan.
PMID: 26926249 DOI: 10.1016/j.ejmg.2016.02.011
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.

Keywords

Acromesomelic dysplasia; BMPR1B; Clinical spectrum; Disease causing mutations; GDF5; NPR2.

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