LymphedemaV1, PubMed, Checkpoint, bibRecord, 003849

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Identifieur interne : 003849 ( PubMed/Checkpoint ); précédent : 003848; suivant : 003850

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Auteurs : Carolyn Sholto-Douglas-Vernon [Royaume-Uni] ; Rachel Bell ; Glen Brice ; Sahar Mansour ; Mansoor Sarfarazi ; Anne H. Child ; Alberto Smith ; Russell Mellor ; Kevin Burnand ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery

Source :

Human genetics [ 0340-6717 ] ; 2005.

RBID : pubmed:15906099

Descripteurs français

English descriptors

KwdEn :
- Amino Acid Sequence, DNA-Binding Proteins (genetics), Family, Female, Forkhead Transcription Factors, Gene Frequency, Genetic Linkage, Humans, Lymphedema (genetics), Male, Molecular Sequence Data, Open Reading Frames (genetics), Pedigree, Sequence Deletion (genetics), Transcription Factors (genetics), United Kingdom.
MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- genetics : Lymphedema, Open Reading Frames, Sequence Deletion.
- Amino Acid Sequence, Family, Female, Forkhead Transcription Factors, Gene Frequency, Genetic Linkage, Humans, Male, Molecular Sequence Data, Pedigree, United Kingdom.

Abstract

Lymphoedema-distichiasis (LD) is a syndromic form of primary lymphoedema, where mutations in the gene for the developmental transcription factor FOXC2 have been shown to be causative. The disorder has been considered very rare, but our group has now ascertained 34 families and 11 sporadic cases in the UK. Two families with LD have no mutation in the coding region of FOXC2, although both are consistent with linkage to the FOXC2 locus. A deletion has been ruled out as a possible cause of LD in these families, leaving promoter mutations as the most likely cause. Sixteen previously unpublished mutations are reported, plus an estimate of the frequency of new mutations in this disorder.

DOI: 10.1007/s00439-005-1275-2
PubMed: 15906099

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: 003C83
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pubmed:15906099

Le document en format XML

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<term>Genetic Linkage</term>
<term>Humans</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Molecular Sequence Data</term>
<term>Open Reading Frames (genetics)</term>
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<term>Famille</term>
<term>Femelle</term>
<term>Fréquence d'allèle</term>
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<front><div type="abstract" xml:lang="en">Lymphoedema-distichiasis (LD) is a syndromic form of primary lymphoedema, where mutations in the gene for the developmental transcription factor FOXC2 have been shown to be causative. The disorder has been considered very rare, but our group has now ascertained 34 families and 11 sporadic cases in the UK. Two families with LD have no mutation in the coding region of FOXC2, although both are consistent with linkage to the FOXC2 locus. A deletion has been ruled out as a possible cause of LD in these families, leaving promoter mutations as the most likely cause. Sixteen previously unpublished mutations are reported, plus an estimate of the frequency of new mutations in this disorder.</div>
</front>
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<Abstract><AbstractText>Lymphoedema-distichiasis (LD) is a syndromic form of primary lymphoedema, where mutations in the gene for the developmental transcription factor FOXC2 have been shown to be causative. The disorder has been considered very rare, but our group has now ascertained 34 families and 11 sporadic cases in the UK. Two families with LD have no mutation in the coding region of FOXC2, although both are consistent with linkage to the FOXC2 locus. A deletion has been ruled out as a possible cause of LD in these families, leaving promoter mutations as the most likely cause. Sixteen previously unpublished mutations are reported, plus an estimate of the frequency of new mutations in this disorder.</AbstractText>
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Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.

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