Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , |
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. |
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Arquivos brasileiros de oftalmologia (Online) |
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|
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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 |
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1754209029126619136 |