Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome

被引：3

作者：

De Niear, Matthew A. ^{[1
]}

Breazzano, Mark P. ^{[2
]}

Mawn, Louise A. ^{[2
,3
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Med Scientist Training Program, Nashville, TN USA

[2] Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Dept Ophthalmol & Visual Sci, Nashville, TN USA

[3] Vanderbilt Univ, Med Ctr, Dept Neurol Surg, Nashville, TN USA

来源：

OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY | 2018年 / 34卷 / 03期

关键词：

D O I：

10.1097/IOP.0000000000001079

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1 year of age. The patient's family history was notable for distichiasis and lymphedema affecting numerous family members. The patient was found to have a novel heterozygous variant (c. 741_742insGG) in the FOXC2 gene. Mutations in the FOXC2 gene are associated with lymphedema-distichiasis syndrome. An important feature of lymphedema-distichiasis syndrome is that distichiasis is typically present prior to the onset of lymphedema.

引用

页码：E88 / E90

页数：4

共 50 条

[1] Lymphedema-distichiasis syndrome and FOXC2 gene mutation
Traboulsi, EI
Al-Khayer, K
Matsumoto, M
Kimak, MA
Crowe, S
Wilson, SE
Finegold, DN
Ferrell, RE
Meisler, DM
AMERICAN JOURNAL OF OPHTHALMOLOGY, 2002, 134 (04) : 592 - 596
[2] NOVEL FOXC2 MISSENSE MUTATION IDENTIFIED IN PATIENT WITH LYMPHEDEMA-DISTICHIASIS SYNDROME AND REVIEW
Dellinger, M. T.
Thome, K.
Bernas, M. J.
Erickson, R. P.
Witte, M. H.
LYMPHOLOGY, 2008, 41 (03) : 98 - 102
[3] Lymphedema-distichiasis and FOXC2 gene mutations
Erickson, RP
LYMPHOLOGY, 2001, 34 (01) : 1 - 1
[4] 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
[5] 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
[6] 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
[7] A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation
Fabretto, Antonella
Shardlow, Alison
Faletra, Flavio
Lepore, Loredana
Hladnik, Uros
Gasparini, Paolo
OPHTHALMIC GENETICS, 2010, 31 (02) : 98 - 100
[8] 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
[9] 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
[10] Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene
Vreeburg, Maaike
Heitink, Martijn V.
Damstra, Robert J.
Moog, Ute
van Geel, Michel
van Steensel, Maurice A. M.
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2008, 47 : 52 - 55

← 1 2 3 4 5 →