Genetic testing for lymphedema-distichiasis syndrome

被引：0

作者：

Rakhmanov, Yeltay ^{[1
]}

Maltese, Paolo Enrico ^{[1
]}

Paolacci, Stefano ^{[2
]}

Marinelli, Carla ^{[1
]}

Bertelli, Matteo ^{[1
,2
]}

机构：

[1] MAGI Euregio, Bolzano, Italy

[2] MAGIs Lab, Rovereto, Italy

来源：

EUROBIOTECH JOURNAL | 2018年 / 2卷

关键词：

Lymphedema-distichiasis syndrome; FOXC2; EBTNA UTILITY GENE TEST;

D O I：

10.2478/ebtj-2018-0026

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We studied the scientific literature and disease guidelines to summarize the clinical utility of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner, and has unknown prevalence. It is caused by variations in the FOXC2 gene. Clinical diagnosis involves clinical examination, targeted at identifying primary lymphedema (chronic swelling of the extremities) and distichiasis (double row of eyelashes). The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

引用

页码：13 / 15

页数：3

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