Faculty : Mustafa Tekin, M.D.

Mustafa Tekin, M.D.

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Department of Otolaryngology and Department of-
Ophthalmology, Bascom Palmer Eye Institute
Chief, Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics

Dr. Mustafa Tekin is a Professor within the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine in Miami, Florida and the Chief of the Clinical and Translational Genetics Division. Dr. Tekin is board certified in Clinical, Biochemical, and Molecular Genetics, CLIA Laboratory Director of the Biochemical and Molecular Genetics Diagnostic Laboratory, and Director of Laboratory Genetics and Genomics Fellowship Program. As a clinician-scientist, he provides care to children and adults with suspected or diagnosed genetic disorders and runs research programs to delineate phenotype and define etiology in rare genetic disorders with an emphasis on hereditary hearing loss.

MyNCBI Link:

https://www.ncbi.nlm.nih.gov/myncbi/mustafa.tekin.1/bibliography/public/

Top Publications:

  • Bademci G, Abad C, Cengiz FB, Seyhan S, Incesulu A, Guo S, Fitoz S, Atli EI, Gosstola NC, Demir S, Colbert BM, Seyhan GC, Sineni CJ, Duman D, Gurkan H, Morton CC, Dykxhoorn DM, Walz K, Tekin M. Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development. J Clin Invest. 2020 Aug 3;130(8):4213-4217. doi: 10.1172/JCI136951. PMID: 32369452
  • Diaz-Horta O, Subasioglu-Uzak A, Grati M, DeSmidt A, Foster J 2nd, Cao L, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Abad C, Mittal R, Blanton S, Liu XZ, Farooq A, Walz K, Lu Z, Tekin M. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9864-8. doi: 10.1073/pnas.1401950111. Epub 2014 Jun 23. PMID: 24958875
  • Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH. SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1. PMID: 23543054
  • Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21.PMID: 21782149
  • Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 2007 Feb;80(2):338-44. doi: 10.1086/510920. Epub 2006 Dec 27. PMID: 17236138