New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report
January 2017
in “
BMC Medical Genetics
”
TLDR A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
The case report detailed the first Spanish case of Hypotrichosis with Juvenile Macular Dystrophy (HJMD) linked to a new mutation in the CDH3 gene. The patient, a male born in 1998, initially misdiagnosed with other conditions, was found to have a novel maternal missense mutation (p.Val205Met) and a known paternal frameshift mutation (c.830del;p.Gly277Alafs*20) in the CDH3 gene. This confirmed the HJMD diagnosis, characterized by sparse hair and retinal dystrophy. The study underscored the importance of combining clinical assessment with genetic analysis for accurate diagnosis and highlighted the role of genetic testing in managing rare genetic disorders.
