Hypotrichosis with juvenile macular dystrophy: a case report with molecular study

Detalhes bibliográficos
Autor(a) principal: Vicente,Lucas Perez
Data de Publicação: 2017
Outros Autores: Finzi,Simone, Susanna Jr.,Remo, Young,Terri L.
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos brasileiros de oftalmologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000100013
Resumo: 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.
id CBO-2_173fd487f87ddc2d1937a98adf39a0d7
oai_identifier_str oai:scielo:S0004-27492017000100013
network_acronym_str CBO-2
network_name_str Arquivos brasileiros de oftalmologia (Online)
repository_id_str
spelling Hypotrichosis with juvenile macular dystrophy: a case report with molecular studyHypotrichosisMacular degenerationCadherins/geneticsHumansCase reportsABSTRACT 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.Conselho Brasileiro de Oftalmologia2017-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000100013Arquivos Brasileiros de Oftalmologia v.80 n.1 2017reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.5935/0004-2749.20170013info:eu-repo/semantics/openAccessVicente,Lucas PerezFinzi,SimoneSusanna Jr.,RemoYoung,Terri L.eng2017-03-27T00:00:00Zoai:scielo:S0004-27492017000100013Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2017-03-27T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false
dc.title.none.fl_str_mv Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
title Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
spellingShingle Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
Vicente,Lucas Perez
Hypotrichosis
Macular degeneration
Cadherins/genetics
Humans
Case reports
title_short Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
title_full Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
title_fullStr Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
title_full_unstemmed Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
title_sort Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
author Vicente,Lucas Perez
author_facet Vicente,Lucas Perez
Finzi,Simone
Susanna Jr.,Remo
Young,Terri L.
author_role author
author2 Finzi,Simone
Susanna Jr.,Remo
Young,Terri L.
author2_role author
author
author
dc.contributor.author.fl_str_mv Vicente,Lucas Perez
Finzi,Simone
Susanna Jr.,Remo
Young,Terri L.
dc.subject.por.fl_str_mv Hypotrichosis
Macular degeneration
Cadherins/genetics
Humans
Case reports
topic Hypotrichosis
Macular degeneration
Cadherins/genetics
Humans
Case reports
description 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.
publishDate 2017
dc.date.none.fl_str_mv 2017-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000100013
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000100013
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/0004-2749.20170013
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Oftalmologia v.80 n.1 2017
reponame:Arquivos brasileiros de oftalmologia (Online)
instname:Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
instname_str Conselho Brasileiro de Oftalmologia (CBO)
instacron_str CBO
institution CBO
reponame_str Arquivos brasileiros de oftalmologia (Online)
collection Arquivos brasileiros de oftalmologia (Online)
repository.name.fl_str_mv Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)
repository.mail.fl_str_mv aboonline@cbo.com.br||abo@cbo.com.br
_version_ 1754209029126619136