학술논문
Report of a case of RAVEN, hair heterochromia and autism in the setting of FGFR2 mutation.
Document Type
Article
Author
Source
Subject
*FIBROBLAST growth factors
*AUTISM spectrum disorders
*GENETIC mutation
*AUTISM
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Language
ISSN
0736-8046
Abstract
A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations. [ABSTRACT FROM AUTHOR]