Article
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Clinical genetics - 1 Feb 2013
Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N
Abstract excerpt
Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is an X-linked dominant disorder, caused by heterozygous mutations in the OFD1 gene and characterized by facial anomalies, abnormalities in oral tissues, digits, brain, and kidney; and male lethality in the first or second trimester pregnancy. We encountered a family with three affected male neonates having an 'unclassified' X-linked lethal congenital...
Topics
- Exome
- Female
- Genetic Counseling
- Genetic Diseases, X-Linked
- Humans
- Male
- Mutation
- Orofaciodigital Syndromes
- Pedigree
- Pregnancy
- Proteins