Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.
A patient with the classical phenotype of Lymphedema-Distichiasis syndrome (OMIM 153400) is described who showed no mutations in the sequence of FOXC2. Accordingly, a Gene Chip 250k array analysis was undertaken with dense SNP genotyping of the genomic region surrounding the FOXC2 locus on Chromosome 16 followed by copy number evaluation by real time PCR. The latter assay showed evidence of a duplicated region 5' of FOXC2 that could be causative for the patient's striking phenotype, which included both distichiasis and a hyperplastic refluxing lymphatic vascular and lymph node phenotype associated with pubertal onset lymphedema, scoliosis and strabismus.
Witte
M H
MH
Department of Surgery, University of Arizona College of Medicine, Tucson, AZ 85724-5200, USA. lymph@email.arizona.edu
Erickson
R P
RP
Khalil
M
M
Dellinger
M
M
Bernas
M
M
Grogan
T
T
Nitta
H
H
Feng
J
J
Duggan
D
D
Witte
C L
CL
D020121:5' Untranslated Regions / Q000235:genetics*; D000328:Adult; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005140:Eyelashes / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013577:Syndrome
D020121:5' Untranslated Regions; D051858:Forkhead Transcription Factors; C082078:mesenchyme fork head 1 protein