A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
Journal of Genetic Medicine
;
: 57-60, 2015.
Artículo
en Inglés
| WPRIM
| ID: wpr-18084
ABSTRACT
CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Nasofaringe
/
Consenso
/
Crecimiento y Desarrollo
/
Síndrome de DiGeorge
/
Oído
/
Síndrome CHARGE
/
Corazón
/
Hipocalcemia
/
Corea (Geográfico)
Tipo de estudio:
Guía de Práctica Clínica
/
Estudio pronóstico
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2015
Tipo del documento:
Artículo
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