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Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.

Authors
  • Faily, Sara1
  • Perveen, Rahat1
  • Chandler, Kate1, 2
  • Clayton-Smith, Jill1, 2
  • 1 Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, United Kingdom. , (United Kingdom)
  • 2 Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom. , (United Kingdom)
Type
Published Article
Journal
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Publication Date
May 01, 2020
Volume
57
Issue
5
Pages
606–615
Identifiers
DOI: 10.1177/1055665620902880
PMID: 32064904
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face, and digits. This condition is associated with mutations in the OFD1 gene. Our objective was to recruit patients with the OFD1 clinical phenotype without genetic confirmation, aiming to identify genetic variants in the OFD1 gene. Three patients from 2 unrelated families were recruited into our study. We employed a variety of genomic techniques on these patients, including candidate gene analysis, array comparative genomic hybridization, whole-exome sequencing, and whole-genome sequencing. We investigated 3 affected patients from 2 unrelated families with a clinical diagnosis of OFD1. We discovered a novel pathogenic dominant missense mutation c.635G>C (p.Arg212Pro) in the OFD1 gene in one family. A novel frameshift, loss-of-function mutation c.306delA (p.Glu103LysfsTer42) was detected in the affected patient in the second family. These new genetic variants will add to the spectrum of known OFD1 mutations associated with the OFD1 disorder. Our study also confirms the variable phenotypic presentation of OFD1 and its well-recognized association with central nervous system malformations and renal anomalies. Molecular diagnostic confirmation achieved in these families will have positive implications for their medical management.

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