Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate
Identifieur interne : 000259 ( Main/Exploration ); précédent : 000258; suivant : 000260Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate
Auteurs : Trilochan Sahoo [États-Unis] ; Aaron Theisen [États-Unis] ; Pedro A. Sanchez-Lara [États-Unis] ; Michael Marble [États-Unis] ; Daniela N. Schweitzer [États-Unis] ; Beth S. Torchia [États-Unis] ; Allen N. Lamb [États-Unis] ; Bassem A. Bejjani [États-Unis] ; Lisa G. Shaffer [États-Unis] ; Yves Lacassie [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-07.
English descriptors
Abstract
Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft palate (CL/P) occurs as isolated congenital anomalies, there exist a large number of Mendelian disorders in which orofacial clefting is part of the clinical phenotype. Here we report on two individuals and one multi‐generational family with microdeletions at 20p12.3 that include the bone morphogenetic protein 2 (BMP2) gene. In two propositi the deletion was almost identical at ∼600 kb in size, and BMP2 was the only gene deleted; the third case had a ∼5.5‐Mb deletion (20p13p12.2) that encompassed at least 20 genes including BMP2. Clinical features were significant for cleft palate and facial dysmorphism in all three patients, including Pierre‐Robin sequence in two. Microdeletion 20p13p12 involving BMP2 is rare and has been implicated in Wolff–Parkinson–White (WPW) syndrome with neurocognitive deficits and with Alagille syndrome when the deletion includes the neighboring JAG1 gene in addition to BMP2. Despite a significant role for the BMPs in orofacial development, heterozygous loss of BMP2 has not been previously reported in patients with syndromic clefting defects. Because BMP2 was the sole deleted gene in Patients 1 and 2 and one of the genes deleted in Patient 3, all of whom had clinical features in common, we suggest that haploinsufficiency for BMP2 is a crucial event that predisposes to cleft palate and additional anomalies. Lack of significant phenotypic components in family members of Patient 1 suggests variable expressivity for the phenotype. © 2011 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.34063
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Genet.</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-07">2011-07</date><biblScope unit="volume">155</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1646">1646</biblScope><biblScope unit="page" to="1653">1653</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">9E24BF3B2DA3E969DB2884AC093ADFC6CA64ACBF</idno><idno type="DOI">10.1002/ajmg.a.34063</idno><idno type="ArticleID">AJMG34063</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>20p12.3</term><term>BMP2</term><term>Wolff–Parkinson–White syndrome</term><term>cleft palate</term><term>microdeletion</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft palate (CL/P) occurs as isolated congenital anomalies, there exist a large number of Mendelian disorders in which orofacial clefting is part of the clinical phenotype. Here we report on two individuals and one multi‐generational family with microdeletions at 20p12.3 that include the bone morphogenetic protein 2 (BMP2) gene. In two propositi the deletion was almost identical at ∼600 kb in size, and BMP2 was the only gene deleted; the third case had a ∼5.5‐Mb deletion (20p13p12.2) that encompassed at least 20 genes including BMP2. Clinical features were significant for cleft palate and facial dysmorphism in all three patients, including Pierre‐Robin sequence in two. Microdeletion 20p13p12 involving BMP2 is rare and has been implicated in Wolff–Parkinson–White (WPW) syndrome with neurocognitive deficits and with Alagille syndrome when the deletion includes the neighboring JAG1 gene in addition to BMP2. Despite a significant role for the BMPs in orofacial development, heterozygous loss of BMP2 has not been previously reported in patients with syndromic clefting defects. Because BMP2 was the sole deleted gene in Patients 1 and 2 and one of the genes deleted in Patient 3, all of whom had clinical features in common, we suggest that haploinsufficiency for BMP2 is a crucial event that predisposes to cleft palate and additional anomalies. Lack of significant phenotypic components in family members of Patient 1 suggests variable expressivity for the phenotype. © 2011 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Louisiane</li><li>Washington (État)</li></region></list><tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Sahoo, Trilochan" sort="Sahoo, Trilochan" uniqKey="Sahoo T" first="Trilochan" last="Sahoo">Trilochan Sahoo</name></region><name sortKey="Bejjani, Bassem A" sort="Bejjani, Bassem A" uniqKey="Bejjani B" first="Bassem A." last="Bejjani">Bassem A. Bejjani</name><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><name sortKey="Lacassie, Yves" sort="Lacassie, Yves" uniqKey="Lacassie Y" first="Yves" last="Lacassie">Yves Lacassie</name><name sortKey="Lamb, Allen N" sort="Lamb, Allen N" uniqKey="Lamb A" first="Allen N." last="Lamb">Allen N. Lamb</name><name sortKey="Marble, Michael" sort="Marble, Michael" uniqKey="Marble M" first="Michael" last="Marble">Michael Marble</name><name sortKey="Marble, Michael" sort="Marble, Michael" uniqKey="Marble M" first="Michael" last="Marble">Michael Marble</name><name sortKey="Sanchez Ara, Pedro A" sort="Sanchez Ara, Pedro A" uniqKey="Sanchez Ara P" first="Pedro A." last="Sanchez-Lara">Pedro A. Sanchez-Lara</name><name sortKey="Sanchez Ara, Pedro A" sort="Sanchez Ara, Pedro A" uniqKey="Sanchez Ara P" first="Pedro A." last="Sanchez-Lara">Pedro A. 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