Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome

Título traducido de la contribución: Meibografía infrarroja y evaluación molecular de la mutación del gen p63 en un paciente mexicano con síndrome EEC

M. Garza-Leon, R. B.R. León-Cachón, R. Villafuerte-de la Cruz, D. A. Martínez-Treviño

Resultado de la investigación

1 Cita (Scopus)

Resumen

Objetivo
Reportar el hallazgo de la meibografía infrarroja en un paciente mexicano con el síndrome de EEC (Ectrodactyly-ectodermal dysplasia-cleft syndrome) confirmado por análisis molecular del gen p63.
Caso clínico
Paciente varón de 31 años de edad que acude por presentar una historia de pérdida visual progresiva en ambos ojos asociada a fotofobia de larga duración. El paciente nació con labio y paladar hendido, y ectodactilia de la mano derecha; posteriormente presentó displasia ungueal, anodoncia y alopecia, con lo que se diagnosticó displasia ectodérmica. Las alteraciones oftalmológicas se limitaron a los anexos y la superficie ocular. La meibografía infrarroja in vivo mostró la ausencia total de glándulas de Meibomio en los párpados inferiores y deficiencia severa en los párpados superiores. Además, identificamos que el paciente es un portador heterocigoto de una mutación de sentido equivocado R304W (C → T) en el exón 8 del gen p63.
Discusión
La mutación R304W en la región del gen p63 está definitivamente relacionada con características tales como la ausencia de glándulas de Meibomio.
Idioma originalEnglish
Páginas (desde-hasta)562-566
Número de páginas5
PublicaciónArchivos de la Sociedad Espanola de Oftalmologia
Volumen93
N.º11
DOI
EstadoPublished - 1 nov 2018

Huella dactilar

Meibomian Glands
Mutation
Eyelids
Genes
Anodontia
Ectodermal Dysplasia
Photophobia
Cleft Lip
Alopecia
Cleft Palate
Missense Mutation
Nails
Exons
Hand
Ectrodactyly-cleft lip-palate syndrome

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Citar esto

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title = "Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome",
abstract = "Objective: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly–ectodermal dysplasia–cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. Discussion: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.",
author = "M. Garza-Leon and Le{\'o}n-Cach{\'o}n, {R. B.R.} and {Villafuerte-de la Cruz}, R. and Mart{\'i}nez-Trevi{\~n}o, {D. A.}",
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Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome. / Garza-Leon, M.; León-Cachón, R. B.R.; Villafuerte-de la Cruz, R.; Martínez-Treviño, D. A.

En: Archivos de la Sociedad Espanola de Oftalmologia, Vol. 93, N.º 11, 01.11.2018, p. 562-566.

Resultado de la investigación

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AU - Villafuerte-de la Cruz, R.

AU - Martínez-Treviño, D. A.

PY - 2018/11/1

Y1 - 2018/11/1

N2 - Objective: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly–ectodermal dysplasia–cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. Discussion: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.

AB - Objective: To report the finding of infrared meibography in a Mexican patient with EEC syndrome (Ectrodactyly–ectodermal dysplasia–cleft syndrome) confirmed by molecular analysis of the p63 gene. Clinical case: A 31 year-old male patient was seen due to a history of progressive visual loss in both eyes associated with long-term photophobia. The patient was born with cleft lip and palate, ectrodactyly of right hand, and afterwards, displayed nail dysplasia, anodontia and alopecia, with which ectodermal dysplasia was diagnosed. The ophthalmological findings were limited to the adnexa and the ocular surface. In vivo infrared meibography showed total absence of Meibomian glands in the lower eyelids and severe deficiency in the upper eyelids. In addition, it was shown that the patient was a heterozygous carrier of a missense mutation R304W (C → T) in exon 8 of the p63 gene. Discussion: The R304W mutation in the p63 gene region is definitely related to characteristics such as the absence of Meibomian glands.

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