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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome
- Source :
- Human Mutation. 32:1114-1117
- Publication Year :
- 2011
- Publisher :
- Hindawi Limited, 2011.
-
Abstract
- Hajdu-Cheney syndrome (HCS) is a rare genetic disorder whose hallmark is acro-osteolysis, shortening of terminal phalanges, and generalized osteoporosis. We assembled a cohort of seven families with the condition and performed whole exome resequencing on a selected set of affected patients. One protein-coding gene, NOTCH2, carried heterozygous truncating variants in all patients and their affected family members. Our results replicate recently published studies of HCS and further support this as the causal gene for the disorder. In total, we identified five novel and one previously reported mutation, all clustered near the carboxyl terminus of the gene, suggesting an allele specific genotype-phenotype effect since other mutations in NOTCH2 have been reported to cause a form of Alagille syndrome. Notch-mediated signaling is known to play a role in bone metabolism. Our results support a potential therapeutic role for Notch pathways in treatment of osteoporosis. Hum Mutat 32:1114–1117, 2011. ©2011 Wiley-Liss, Inc.
- Subjects :
- Male
Hajdu–Cheney syndrome
Osteoporosis
Biology
Hajdu-Cheney Syndrome
medicine.disease_cause
Acro-Osteolysis
Alagille syndrome
Genetics
medicine
Humans
Exome
Receptor, Notch2
Gene
Genetics (clinical)
Family Health
Mutation
Genetic disorder
Hand
medicine.disease
Pedigree
Radiography
Face
Female
Hand Deformities, Congenital
Subjects
Details
- ISSN :
- 10597794
- Volume :
- 32
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi.dedup.....5f235eedeb6aef24a7e0bdf497e1fa64