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

Matthew A. De Niear; Mark P. Breazzano; Louise A. Mawn

doi:10.1097/IOP.0000000000001079

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

Matthew A. De Niear, Mark P. Breazzano, Louise A. Mawn

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Pages (from-to)	e88-e90
Journal	Ophthalmic plastic and reconstructive surgery
Volume	34
Issue number	3
DOIs	https://doi.org/10.1097/IOP.0000000000001079
State	Published - May 1 2018
Externally published	Yes

ASJC Scopus subject areas

Surgery
Ophthalmology

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title = "Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome",

abstract = "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.",

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AU - De Niear, Matthew A.

AU - Breazzano, Mark P.

AU - Mawn, Louise A.

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PY - 2018/5/1

Y1 - 2018/5/1

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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