AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Am J Med Genet A
; 185(4): 1228-1235, 2021 04.
Article
en En
| MEDLINE
| ID: mdl-33439541
ABSTRACT
Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD-H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy. Recently, SMD-H has been associated with variants confined to a specific intra-genic locus involving Exon 7, suggesting that AIFM1 plays an important role in bone development and metabolism as well as cerebral myelination. Here we describe two further affected boys, one with a novel intronic variant associated with skipping of Exon 7 of AIFM1 and the other a synonymous variant within Exon 7 of AIFM1. We describe their clinical course and radiological and genetic findings, providing further insight into the natural history of this condition.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteocondrodisplasias
/
Predisposición Genética a la Enfermedad
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Factor Inductor de la Apoptosis
/
Malformaciones del Sistema Nervioso
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Reino Unido