Author/Authors :
DEHGHAN TEZERJANI, Masoud Medical Genetics Research Center - Shahid Sadoughi University of Medical Sciences, Yazd , MAROOFIAN, Reza Monogenic Molecular Genetics - University of Exeter Medical School - Exeter EX1 2LU, UK , VAHIDI MEHRJARDI, Mohammad Yahya Medical Genetics Research Center - Shahid Sadoughi University of Medical Sciences, Yazd , CHIOZA, Barry A. Monogenic Molecular Genetics - University of Exeter Medical School - Exeter EX1 2LU, UK , ZAMANINEJAD, Shiva Faculty of Dentistry - Golestan Uinversity of Medical Sciences, Gorgan , KALANTAR, Mehdi Research and Clinical Center for Infertility - Shahid Sadoughi University of Medical Sciences, Yazd , NORI-SHADKAM, Mahmoud Dept. of Pediatrics - Shahid Sadoughi University of Medical Sciences, Yazd , GHADIMI, Hamidreza Faculty of Medicine - Tehran University of Medical Sciences, Tehran , BAPLE, Emma L. Human Genetics and Genomic Medicine - Faculty of Medicine - University of Southampton and Wessex Clinical Genetics Service - Princess Anne Hospital, Southampton, UK , CROSBY, Andrew H. Monogenic Molecular Genetics - University of Exeter Medical School - Exeter EX1 2LU, Uk , DEHGHANI, Mohammadreza Medical Genetics Research Center - Shahid Sadoughi University of Medical Sciences, Yazd
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 de-velopmental 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.
Keywords :
OFD1 , Oral-facial-digital syndrome , X-linked dominant , Miscarriage , Ciliopathy
