c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient

Lymphedema–distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset‐lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2010-03, Vol.152A (3), p.737-740
Main Authors: Tanpaiboon, Pranoot, Kantaputra, Piranit, Wejathikul, Karn, Piyamongkol, Wirawit
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
ankyloglossia
Biological and medical sciences
Blepharoptosis - genetics
Blood and lymphatic vessels
Cardiology. Vascular system
Child
Diseases of the lymphatic vessels
distichiasis
DNA Mutational Analysis
Eyelashes - abnormalities
Forkhead Transcription Factors - genetics
FOXC2
Frameshift Mutation
Genes, Dominant
glossoptosis
Humans
Lingual Frenum - abnormalities
lymphedema
Lymphedema - diagnostic imaging
Lymphedema - genetics
Male
Medical genetics
Medical sciences
Mutagenesis, Insertional
Pierre Robin Syndrome - genetics
Radiography
robin sequence
Syndrome
Thailand
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Summary:Lymphedema–distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset‐lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595‐596 insC. © 2010 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33273