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

共 50 条

[21] Phenotypic heterogeneity in lymphedema-distichiasis with FOXC2 mutations.
Glover, TW
Erickson, RP
Dagenais, SL
McDonald, MT
Caulder, MS
Brooks, BP
Glynn, MW
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 631 - 631
[22] Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome
Bialobrzeska, Marta
Stepniewski, Jacek
Martyniak, Alicja
Szuba, Andrzej
Dulak, Jozef
STEM CELL RESEARCH, 2025, 85
[23] Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder
Michelson, Marina
Lidzbarsky, Gabriel
Nishri, Daniella
Israel-Elgali, Ifat
Berger, Rachel
Gafner, Michal
Shomron, Noam
Lev, Dorit
Goldberg, Yael
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (07) : 1990 - 1996
[24] A NOVEL MISSENSE MUTATION AND TWO MICROREARRANGEMENTS IN THE FOXC2 GENE OF THREE FAMILIES WITH LYMPHEDEMA-DISTICHIASIS SYNDROME
Fauret, A. -L.
Tuleja, E.
Jeunemaitre, X.
Vignes, S.
LYMPHOLOGY, 2010, 43 (01) : 14 - 18
[25] A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese case with lymphedema-distichiasis syndrome
Itoh, M.
Nakagawa, H.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2013, 133 : S130 - S130
[26] A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with Lymphedema-Distichiasis Syndrome
Itoh, Munenari
Nakagawa, Hidemi
EUROPEAN JOURNAL OF DERMATOLOGY, 2013, 23 (03) : 411 - 413
[27] FOXC2 gene insufficiency and imbalance in the genesis of the distinctive lymphatic and ocular phenotype of lymphedema-distichiasis syndrome.
Noon, A
Kriederman, B
Witte, M
Rennels, M
Enerback, S
Miura, N
Witte, C
Erickson, R
Dagenais, S
Glover, T
JOURNAL OF INVESTIGATIVE MEDICINE, 2004, 52 (02) : S386 - S386
[28] Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
Fang, JM
Dagenais, SL
Erickson, RP
Arlt, MF
Glynn, MW
Gorski, JL
Seaver, LH
Glover, TW
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) : 1382 - 1388
[29] LYMPHEDEMA-DISTICHIASIS SYNDROME WITHOUT FOXC2 MUTATION: EVIDENCE FOR CHROMOSOME 16 DUPLICATION UPSTREAM OF FOXC2
Witte, M. H.
Erickson, R. P.
Khalil, M.
Dellinger, M.
Bernas, M.
Grogan, T.
Nitta, H.
Feng, J.
Duggan, D.
Witte, C. L.
LYMPHOLOGY, 2009, 42 (04) : 152 - 160
[30] LYMPHEDEMA DISTICHIASIS SYNDROME - A RARE CASE REPORT
Biradar, Dayanand S.
Kumar, Hemanth M.
Ballur, Supreet
JOURNAL OF EVOLUTION OF MEDICAL AND DENTAL SCIENCES-JEMDS, 2013, 2 (34): : 6406 - 6410

← 1 2 3 4 5 →