A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.
J Pediatr Endocrinol Metab
; 28(5-6): 725-9, 2015 May.
Article
en En
| MEDLINE
| ID: mdl-25423669
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is the most frequent phenotype. OBJECTIVE: We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death. METHODS: Diagnosis was based on clinical symptoms, an abnormal very long chain fatty acid profile in plasma, typical CCALD MRI pattern, and molecular analysis. RESULTS: Direct sequencing of the ABCD1 gene in this patient identified a novel splicing mutation (IVS1+1G>A) in intron 1, which is considered to be the pathogenic mutation. CONCLUSION: We have identified a novel ABCD1 mutation as the likely cause of CCALD in a Chinese patient.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Transportadoras de Casetes de Unión a ATP
/
Adrenoleucodistrofia
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Mutación
Límite:
Animals
/
Child
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
Pais de publicación:
Alemania