Tehran University of Medical Sciences

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A Novel Mutation in the Ofd1 Gene in a Family With Oral-Facial-Digital Syndrome Type 1: A Case Report



Dehghan Tezerjani M1, 2 ; Maroofian R3 ; Vahidi Mehrjardi MY1, 4 ; Chioza BA3 ; Zamaninejad S5 ; Kalantar SM2, 4 ; Norishadkam M6 ; Ghadimi H7 ; Baple EL8 ; Crosby AH3 ; Dehghani M1, 2
Authors

Source: Iranian Journal of Public Health Published:2016

Abstract

Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity,facial features and digits. Furthermore,central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene,which can result in embryonic male lethality. In this study,we present a family suffering from orofaciodigital syndrome type I who referred to Medical Genetics Research Center,Shahid Sadoughi University of Medical Sciences in 2015. Two female siblings and their mother shared a novel 2-base pair deletion (c.1964-1965delGA) in exon 16 of OFD1 gene. Clinically,the sibling had oral,facial and brain abnormalities,whereas their mother is very mildly affected. She also had history of recurrent miscarriage of male fetus. © 2016,Iranian Journal of Public Health. All rights reserved.
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