Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
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...
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| Veröffentlicht in: | Arquivos brasileiros de oftalmologia 2017-01, Vol.80 (1), p.49-51 |
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| creator | Vicente, Lucas Perez Finzi, Simone Susanna, Jr, Remo Young, Terri L |
| description | 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. |
| doi_str_mv | 10.5935/0004-2749.20170013 |
| format | Article |
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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). 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This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.</description><subject>Cadherins - genetics</subject><subject>Child</subject><subject>Corneal Dystrophies, Hereditary - genetics</subject><subject>Humans</subject><subject>Hypotrichosis - genetics</subject><subject>Iran</subject><subject>Macular Degeneration - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>OPHTHALMOLOGY</subject><issn>0004-2749</issn><issn>1678-2925</issn><issn>1678-2925</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kNFKwzAUhoMobk5fwAvpC3SeJmnaeCeiThiIqNchTU9YR7uUpFX69rbU7erc_N_5-T9CbhNYp5Kl9wDAY5pxuaaQZAAJOyPLRGR5TCVNz8nyFFiQqxD2AJRLmV6SBc1ZDgmwJfnYDK3rfGV2LlQh-q26XbTvf_BQ1Rg12vS19lE5hM67djc8RDoyOmDksXW-m-ONq3HOha4vh2tyYXUd8Ob_rsj3y_PX0ybevr--PT1uYzO2d3EJloJmQpaCoTbaWJMnHLDgkAsUWFibGgEp0EwUIKWhkgMIygCsQY5sRdbz32AqrJ3au94fxkL1Oc1W0-xZyzh0cjMCdAaMdyF4tKr1VaP9oBJQk1B1AtVR6AjdzVDbFw2WJ-RokP0BB9dvDw</recordid><startdate>201701</startdate><enddate>201701</enddate><creator>Vicente, Lucas Perez</creator><creator>Finzi, Simone</creator><creator>Susanna, Jr, Remo</creator><creator>Young, Terri L</creator><general>Conselho Brasileiro de Oftalmologia</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>GPN</scope></search><sort><creationdate>201701</creationdate><title>Hypotrichosis with juvenile macular dystrophy: a case report with molecular study</title><author>Vicente, Lucas Perez ; Finzi, Simone ; Susanna, Jr, Remo ; Young, Terri L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c283t-d0f20a369d63eacacfc8140eb4086e6ebff5c6050276b099c2940062300fce4e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Cadherins - genetics</topic><topic>Child</topic><topic>Corneal Dystrophies, Hereditary - genetics</topic><topic>Humans</topic><topic>Hypotrichosis - genetics</topic><topic>Iran</topic><topic>Macular Degeneration - genetics</topic><topic>Male</topic><topic>Mutation</topic><topic>OPHTHALMOLOGY</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vicente, Lucas Perez</creatorcontrib><creatorcontrib>Finzi, Simone</creatorcontrib><creatorcontrib>Susanna, Jr, Remo</creatorcontrib><creatorcontrib>Young, Terri L</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>SciELO</collection><jtitle>Arquivos brasileiros de oftalmologia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vicente, Lucas Perez</au><au>Finzi, Simone</au><au>Susanna, Jr, Remo</au><au>Young, Terri L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hypotrichosis with juvenile macular dystrophy: a case report with molecular study</atitle><jtitle>Arquivos brasileiros de oftalmologia</jtitle><addtitle>Arq Bras Oftalmol</addtitle><date>2017-01</date><risdate>2017</risdate><volume>80</volume><issue>1</issue><spage>49</spage><epage>51</epage><pages>49-51</pages><issn>0004-2749</issn><issn>1678-2925</issn><eissn>1678-2925</eissn><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. 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| source | MEDLINE; IngentaConnect Free/Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Cadherins - genetics Child Corneal Dystrophies, Hereditary - genetics Humans Hypotrichosis - genetics Iran Macular Degeneration - genetics Male Mutation OPHTHALMOLOGY |
| title | Hypotrichosis with juvenile macular dystrophy: a case report with molecular study |
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