Affiliation: Ankara University
Tekin M, Cengiz F, Ayberkin E, Kendirli T, Fitoz S, Tutar E, et al
. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A. 2007;143A:875-80 pubmed
..In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS. ..
Tekin M, Akcayoz D, Incesulu A. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. Am J Med Genet A. 2005;138:6-10 pubmed
..Otoacoustic emissions and auditory brainstem response (ABR) suggested the presence of auditory neuropathy in affected individuals. ..
Tekin M, Kavaz A, Berberoglu M, Fitoz S, Ekim M, Ocal G, et al
. The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. Am J Med Genet A. 2004;130A:284-7 pubmed
..Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases. ..
Tekin M, Hişmi B, Fitoz S, Ozdag H, Cengiz F, Sirmaci A, et al
. 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;80:338-44 pubmed
..Of particular interest is that the development of the inner ear is completely disturbed at a very early stage--or the otic vesicle is not induced at all--in all of the affected individuals who carried two mutant FGF3 alleles. ..
Tekin M, Ozturkmen Akay H, Fitoz S, Birnbaum S, Cengiz F, Sennaroglu L, et al
. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet. 2008;73:554-65 pubmed publisher
..However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely. ..
Tekin M, Sirmaci A, Yüksel Konuk B, Fitoz S, Sennaroglu L. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. Am J Med Genet A. 2009;149A:427-30 pubmed publisher
..Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome. ..