title: A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.
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.
authors.affiliation: Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Masoud
authors.initials: M
authors.lastname: Dehghan Tezerjani
authors.affiliation: Monogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK.
authors.forename: Reza
authors.initials: R
authors.lastname: Maroofian
authors.affiliation: Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Dept. of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mohammad Yahya
authors.initials: MY
authors.lastname: Vahidi Mehrjardi
authors.affiliation: Monogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK.
authors.forename: Barry A
authors.initials: BA
authors.lastname: Chioza
authors.affiliation: Faculty of Dentistry, Golestan Uinversity of Medical Sciences, Gorgan, Iran.
authors.forename: Shiva
authors.initials: S
authors.lastname: Zamaninejad
authors.affiliation: Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Dept. of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Seyed Mehdi
authors.initials: SM
authors.lastname: Kalantar
authors.affiliation: Dept. of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Nori-Shadkam
authors.affiliation: Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Hamidreza
authors.initials: H
authors.lastname: Ghadimi
authors.affiliation: Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
authors.forename: Emma L
authors.initials: EL
authors.lastname: Baple
authors.affiliation: Monogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK.
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Crosby
authors.affiliation: Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Dehghani
keywords: Ciliopathy; Miscarriage; OFD1; Oral-facial-digital syndrome; X-linked dominant