FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
Identifieur interne : 000664 ( France/Analysis ); précédent : 000663; suivant : 000665FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
Auteurs : M. Bahuau [France] ; C. Houdayer ; M. Tredano ; V. Soupre [France] ; R. Couderc ; M-P Vazquez [France]Source :
- Clinical Genetics [ 0009-9163 ] ; 2002-12.
Descripteurs français
- KwdFr :
- Analyse de séquence d'ADN, Chromosomes humains de la paire 16, Cils (malformations), Données de séquences moléculaires, Facteurs de transcription (génétique), Facteurs de transcription Forkhead, Femelle, Fente palatine (génétique), Humains, Lymphoedème (génétique), Malformations multiples (génétique), Mutation avec décalage du cadre de lecture, Mutation faux-sens, Mâle, Pedigree, Phénotype, Protéines de liaison à l'ADN (génétique), Santé de la famille, Séquence nucléotidique.
- MESH :
- génétique : Facteurs de transcription, Fente palatine, Lymphoedème, Malformations multiples, Protéines de liaison à l'ADN.
- malformations : Cils.
- Pascal (Inist)
- Analyse de séquence d'ADN, Caractère autosomique, Caractère dominant, Chromosomes humains de la paire 16, Distichiasis, Données de séquences moléculaires, Déterminisme génétique, Etude familiale, Facteurs de transcription Forkhead, Femelle, Fissure congénitale, Gène, Homme, Humains, Lymphoedème, Mutation, Mutation avec décalage du cadre de lecture, Mutation faux-sens, Myopie, Mâle, Palais, Pathogénie, Pedigree, Phénotype, Santé de la famille, Strabisme divergent, Séquence nucléotidique.
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Autosomal character, Base Sequence, Chromosomes, Human, Pair 16, Cleft, Cleft Palate (genetics), DNA-Binding Proteins (genetics), Distichiasis, Dominant character, Exotropia, Eyelashes (abnormalities), Family Health, Family study, Female, Forkhead Transcription Factors, Frameshift Mutation, Gene, Genetic determinism, Human, Humans, Lymphedema, Lymphedema (genetics), Male, Molecular Sequence Data, Mutation, Mutation, Missense, Myopia, Palate, Pathogenesis, Pedigree, Phenotype, Sequence Analysis, DNA, Transcription Factors (genetics).
- MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- abnormalities : Eyelashes.
- genetics : Abnormalities, Multiple, Cleft Palate, Lymphedema.
- Base Sequence, Chromosomes, Human, Pair 16, Family Health, Female, Forkhead Transcription Factors, Frameshift Mutation, Humans, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Sequence Analysis, DNA.
Abstract
Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez M‐P. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.
Clin Genet 2002: 62: 470–473. © Blackwell Munksgaard, 2002 We report a family showing autosomal‐dominant segregation of upper‐ and lower‐eyelid distichiasis (double row of eyelashes) in seven affected relatives over three generations, in addition to below‐knee lymphedema of pubertal onset (lymphœdema prœcox) in three. Two children had cleft palate in addition to distichiasis, but without the previously reported association with the Pierre–Robin sequence. Other ophthalmologic anomalies included divergent strabismus and early‐onset myopia. This family was found to be completely linked to markers mapped to 16q24.3 and thereby proposed to be allelic to the distichiasis–lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here. As FOXC2/FKLH14 mutations were found to underlie DL and diverse hereditary lymphedema conditions, this gene was examined by sequence analysis. An out‐of‐frame deletion (914–921del) was identified and found to segregate with the disease, further highlighting the phenotypic heterogeneity of lymphedema conditions linked to FOXC2 truncating mutations. Whether such heterogeneity is related to genotype–phenotype correlation, a hypothesis not primarily supported by the apparent loss‐of‐function mechanism of the mutations, or governed by modifying genes, remains to be determined.
Url:
DOI: 10.1034/j.1399-0004.2002.620608.x
Affiliations:
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(genetics)</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Mutation, Missense</term><term>Myopia</term><term>Palate</term><term>Pathogenesis</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, DNA</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Chromosomes humains de la paire 16</term><term>Cils (malformations)</term><term>Données de séquences moléculaires</term><term>Facteurs de transcription (génétique)</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Fente palatine (génétique)</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Malformations multiples (génétique)</term><term>Mutation avec décalage du cadre de lecture</term><term>Mutation faux-sens</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Protéines de liaison à l'ADN (génétique)</term><term>Santé de la 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Factors</term><term>Frameshift Mutation</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation, Missense</term><term>Pedigree</term><term>Phenotype</term><term>Sequence Analysis, DNA</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Caractère autosomique</term><term>Caractère dominant</term><term>Chromosomes humains de la paire 16</term><term>Distichiasis</term><term>Données de séquences moléculaires</term><term>Déterminisme génétique</term><term>Etude familiale</term><term>Facteurs de transcription Forkhead</term><term>Femelle</term><term>Fissure congénitale</term><term>Gène</term><term>Homme</term><term>Humains</term><term>Lymphoedème</term><term>Mutation</term><term>Mutation avec décalage du cadre de lecture</term><term>Mutation faux-sens</term><term>Myopie</term><term>Mâle</term><term>Palais</term><term>Pathogénie</term><term>Pedigree</term><term>Phénotype</term><term>Santé de la famille</term><term>Strabisme divergent</term><term>Séquence nucléotidique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez M‐P. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.
Clin Genet 2002: 62: 470–473. © Blackwell Munksgaard, 2002 We report a family showing autosomal‐dominant segregation of upper‐ and lower‐eyelid distichiasis (double row of eyelashes) in seven affected relatives over three generations, in addition to below‐knee lymphedema of pubertal onset (lymphœdema prœcox) in three. Two children had cleft palate in addition to distichiasis, but without the previously reported association with the Pierre–Robin sequence. Other ophthalmologic anomalies included divergent strabismus and early‐onset myopia. This family was found to be completely linked to markers mapped to 16q24.3 and thereby proposed to be allelic to the distichiasis–lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here. As FOXC2/FKLH14 mutations were found to underlie DL and diverse hereditary lymphedema conditions, this gene was examined by sequence analysis. An out‐of‐frame deletion (914–921del) was identified and found to segregate with the disease, further highlighting the phenotypic heterogeneity of lymphedema conditions linked to FOXC2 truncating mutations. Whether such heterogeneity is related to genotype–phenotype correlation, a hypothesis not primarily supported by the apparent loss‐of‐function mechanism of the mutations, or governed by modifying genes, remains to be determined.</div></front></TEI><affiliations><list><country><li>France</li></country></list><tree><noCountry><name sortKey="Couderc, R" sort="Couderc, R" uniqKey="Couderc R" first="R" last="Couderc">R. Couderc</name><name sortKey="Houdayer, C" sort="Houdayer, C" uniqKey="Houdayer C" first="C" last="Houdayer">C. Houdayer</name><name sortKey="Tredano, M" sort="Tredano, M" uniqKey="Tredano M" first="M" last="Tredano">M. Tredano</name></noCountry><country name="France"><noRegion><name sortKey="Bahuau, M" sort="Bahuau, M" uniqKey="Bahuau M" first="M" last="Bahuau">M. Bahuau</name></noRegion><name sortKey="Soupre, V" sort="Soupre, V" uniqKey="Soupre V" first="V" last="Soupre">V. Soupre</name><name sortKey="Vazquez, M" sort="Vazquez, M" uniqKey="Vazquez M" first="M-P" last="Vazquez">M-P Vazquez</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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