A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
-
Masoud DEHGHAN TEZERJANI
,
Reza MAROOFIAN
,
Mohammad Yahya VAHIDI MEHRJARDI
,
Barry A. CHIOZA
,
Shiva ZAMANINEJAD
,
Seyed Mehdi KALANTAR
,
Mahmoud NORI-SHADKAM
,
Hamidreza GHADIMI
,
Emma L. BAPLE
,
Andrew H. CROSBY
,
Mohammadreza DEHGHANI
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.
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| Files | ||
| Issue | Vol 45 No 10 (2016) | |
| Section | Case Report(s) | |
| Keywords | ||
| OFD1 Oral-facial-digital syndrome X-linked dominant Miscarriage Ciliopathy | ||
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