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 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.
Tanpaiboon
Pranoot
P
Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand. tanpaiboon1@yahoo.com
Kantaputra
Piranit
P
Wejathikul
Karn
K
Piyamongkol
Wirawit
W
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005140:Eyelashes / Q000002:abnormalities; D051858:Forkhead Transcription Factors / Q000235:genetics*; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006801:Humans; D008035:Lingual Frenum / Q000002:abnormalities; D008209:Lymphedema / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D016254:Mutagenesis, Insertional; D010855:Pierre Robin Syndrome / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D013785:Thailand
D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein