Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 33-38, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-310715
ABSTRACT
<p><b>BACKGROUND</b>The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.</p><p><b>METHODS</b>Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.</p><p><b>RESULTS</b>Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype.</p><p><b>CONCLUSION</b>Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Trastornos de la Pigmentación
/
Enfermedades Cutáneas Genéticas
/
Adenosina Desaminasa
/
Proteínas de Unión al ARN
/
Transportadoras de Casetes de Unión a ATP
/
Predisposición Genética a la Enfermedad
/
Pueblo Asiatico
/
Diagnóstico
/
Diagnóstico Diferencial
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Niño
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Chinese Medical Journal
Año:
2016
Tipo del documento:
Artículo
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