LYMPHEDEMA-DISTICHIASIS SYNDROME WITHOUT FOXC2 MUTATION: EVIDENCE FOR CHROMOSOME 16 DUPLICATION UPSTREAM OF FOXC2

被引：0

作者：

Witte, M. H. ^{[1
]}

Erickson, R. P. ^{[2
,3
]}

Khalil, M. ^{[2
]}

Dellinger, M. ^{[1
,2
,3
]}

Bernas, M. ^{[1
]}

Grogan, T. ^{[4
,5
]}

Nitta, H. ^{[5
]}

Feng, J.

Duggan, D. ^{[6
]}

Witte, C. L. ^{[1
]}

机构：

[1] Univ Arizona & Pathol, St Marys Hosp, Dept Surg, Tucson, AZ USA

[2] Univ Arizona & Pathol, St Marys Hosp, Dept Pediat, Tucson, AZ USA

[3] Univ Arizona & Pathol, St Marys Hosp, Dept Mol & Cell Biol, Tucson, AZ USA

[4] Univ Arizona & Pathol, St Marys Hosp, Dept Pathol, Tucson, AZ USA

[5] Ventana Med Syst, Oro Valley, AZ USA

[6] Translat Genom Res Inst, Phoenix, AZ USA

来源：

LYMPHOLOGY | 2009年 / 42卷 / 04期

关键词：

lymphedema; distichiasis; Foxc2; chromosome copy number variation; chromosome; 16; duplication; FOXC2; FACTOR GENE FOXC1; TRANSCRIPTION FACTOR; TRUNCATING MUTATIONS; ANTERIOR-CHAMBER; IRIS HYPOPLASIA; 6P DELETION; HAPLOINSUFFICIENT; ABNORMALITIES; FAMILIES; GLAUCOMA;

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：152 / 160

页数：9

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