Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
Am J Med Genet A
; 140(3): 284-90, 2006 Feb 01.
Article
in En
| MEDLINE
| ID: mdl-16411219
ABSTRACT
We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele-specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Achondroplasia
/
Receptor, Fibroblast Growth Factor, Type 3
/
Mutation
Limits:
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2006
Document type:
Article
Affiliation country:
Netherlands