Journal
JOURNAL OF HUMAN GENETICS
Volume 63, Issue 4, Pages 487-491Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/s10038-017-0404-9
Keywords
-
Categories
Funding
- Research on Measures for Intractable Diseases
- Comprehensive Research on Disability Health and Welfare
- Strategic Research Program for Brain Science
- Initiative on Rare and Undiagnosed Diseases in Pediatrics from the Ministry of Education, Culture, Sports, Science and Technology of Japan
- Initiative on Rare and Undiagnosed Diseases in Adults from the Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- fund for the Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems from the Japan Science and Technology Agency
- Ministry of Health, Labour and Welfare
- Takeda Science Foundation
- Ichiro Kanehara Foundation for the Promotion of Medical Science Medical Care
- Grants-in-Aid for Scientific Research [17K15630, 16H05357] Funding Source: KAKEN
Ask authors/readers for more resources
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c.1227delG, p.[Ala411Argfs*91]) was identified, which is likely responsible for the familial condition. The unique clinical features of the affected siblings are cleft palate and absent renal findings.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available