title: Hypotrichosis with juvenile macular dystrophy: a case report with molecular study.
abstract: Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.
authors.affiliation: Department of Ophthalmology, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
authors.forename: Lucas Perez
authors.initials: LP
authors.lastname: Vicente
authors.affiliation: Department of Ophthalmology, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Finzi
authors.affiliation: Department of Ophthalmology, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
authors.forename: Remo
authors.initials: R
authors.lastname: Susanna
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Wisconsin, Wisconsin, USA.
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
mesh_terms: D015820:Cadherins / Q000235:genetics*; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*; D007492:Iran; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: D015820:Cadherins