LADD syndrome is caused by FGF10 mutations

Lacrimo‐auriculo‐dento‐digital syndrome [LADD (MIM 149730)] is an autosomal‐dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup‐shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations...

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Veröffentlicht in:Clinical genetics 2006-04, Vol.69 (4), p.349-354
Hauptverfasser: Milunsky, JM, Zhao, G, Maher, TA, Colby, R, Everman, DB
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creator Milunsky, JM
Zhao, G
Maher, TA
Colby, R
Everman, DB
description Lacrimo‐auriculo‐dento‐digital syndrome [LADD (MIM 149730)] is an autosomal‐dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup‐shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125–127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3‐year‐old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non‐conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19‐year‐old mother with ALSG and her 2‐year‐old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.
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Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125–127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3‐year‐old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non‐conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19‐year‐old mother with ALSG and her 2‐year‐old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2006.00597.x</identifier><identifier>PMID: 16630169</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK; Malden, USA: Blackwell Publishing Ltd/Inc</publisher><subject>Abnormalities, Multiple - genetics ; Adult ; ALSG ; autosomal-dominant disorder ; Base Sequence ; Biological and medical sciences ; Child, Preschool ; Ear, External - abnormalities ; Female ; FGF10 ; Fibroblast Growth Factor 10 - genetics ; Fibroblast Growth Factor 10 - metabolism ; General aspects. 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Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125–127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3‐year‐old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non‐conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19‐year‐old mother with ALSG and her 2‐year‐old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Adult</subject><subject>ALSG</subject><subject>autosomal-dominant disorder</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Ear, External - abnormalities</subject><subject>Female</subject><subject>FGF10</subject><subject>Fibroblast Growth Factor 10 - genetics</subject><subject>Fibroblast Growth Factor 10 - metabolism</subject><subject>General aspects. Genetic counseling</subject><subject>Humans</subject><subject>Lacrimal Apparatus - abnormalities</subject><subject>LADD syndrome</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Salivary Glands - abnormalities</subject><subject>Syndrome</subject><subject>Tooth Abnormalities - genetics</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU9PwyAYh4nRuDn9CqYXPZi08hZKS-Jl2Z-qmZoYzbwRCjTpbNdZ1rh9e6lb5lUuL4Tn9wIPCHmAA3DjdhEA4dzHGNMgxJgFGEc8DjZHqH_YOEZ9V7jPgZEeOrN24ZYkjvgp6gFjBAPjfXQzG47Hnt0udVNXxiusp2RrjfayrTdNp4C9ql3LdVEv7Tk6yWVpzcW-DtD7dPI2uvdnL-nDaDjzFSU09nOJteEJUUBAg9aZBIxDUBmLI8KM4oAhk1FiGNU6V4SFKqMR5DwzPORUkwG63vVdNfVXa-xaVIVVpizl0tStFSxOOESUODDZgaqprW1MLlZNUclmKwCLzpNYiE6H6HSIzpP49SQ2Lnq5P6PNKqP_gnsxDrjaA9IqWeaNXKrC_nExo2HMsOPudtx3UZrtvy8gRunETVzc38ULuzabQ1w2n-6Z7rPE_DkVj-zj9YnQVMzJDzNTj7I</recordid><startdate>200604</startdate><enddate>200604</enddate><creator>Milunsky, JM</creator><creator>Zhao, G</creator><creator>Maher, TA</creator><creator>Colby, R</creator><creator>Everman, DB</creator><general>Blackwell Publishing Ltd/Inc</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>200604</creationdate><title>LADD syndrome is caused by FGF10 mutations</title><author>Milunsky, JM ; Zhao, G ; Maher, TA ; Colby, R ; Everman, DB</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4347-fa0de983c131d1ddba10021cb67536ec9101ba58e64ddfc362cb451f9be9294d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Adult</topic><topic>ALSG</topic><topic>autosomal-dominant disorder</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Ear, External - abnormalities</topic><topic>Female</topic><topic>FGF10</topic><topic>Fibroblast Growth Factor 10 - genetics</topic><topic>Fibroblast Growth Factor 10 - metabolism</topic><topic>General aspects. Genetic counseling</topic><topic>Humans</topic><topic>Lacrimal Apparatus - abnormalities</topic><topic>LADD syndrome</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Salivary Glands - abnormalities</topic><topic>Syndrome</topic><topic>Tooth Abnormalities - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Milunsky, JM</creatorcontrib><creatorcontrib>Zhao, G</creatorcontrib><creatorcontrib>Maher, TA</creatorcontrib><creatorcontrib>Colby, R</creatorcontrib><creatorcontrib>Everman, DB</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Milunsky, JM</au><au>Zhao, G</au><au>Maher, TA</au><au>Colby, R</au><au>Everman, DB</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>LADD syndrome is caused by FGF10 mutations</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2006-04</date><risdate>2006</risdate><volume>69</volume><issue>4</issue><spage>349</spage><epage>354</epage><pages>349-354</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Lacrimo‐auriculo‐dento‐digital syndrome [LADD (MIM 149730)] is an autosomal‐dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup‐shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125–127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3‐year‐old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non‐conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19‐year‐old mother with ALSG and her 2‐year‐old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.</abstract><cop>Oxford, UK; Malden, USA</cop><pub>Blackwell Publishing Ltd/Inc</pub><pmid>16630169</pmid><doi>10.1111/j.1399-0004.2006.00597.x</doi><tpages>6</tpages></addata></record>
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subjects Abnormalities, Multiple - genetics
Adult
ALSG
autosomal-dominant disorder
Base Sequence
Biological and medical sciences
Child, Preschool
Ear, External - abnormalities
Female
FGF10
Fibroblast Growth Factor 10 - genetics
Fibroblast Growth Factor 10 - metabolism
General aspects. Genetic counseling
Humans
Lacrimal Apparatus - abnormalities
LADD syndrome
Medical genetics
Medical sciences
Molecular Sequence Data
Mutation
Polymorphism, Single Nucleotide
Salivary Glands - abnormalities
Syndrome
Tooth Abnormalities - genetics
title LADD syndrome is caused by FGF10 mutations
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