Familial campomelic dysplasia due to maternal germinal mosaicism.
Congenit Anom (Kyoto)
; 58(6): 194-197, 2018 Nov.
Article
en En
| MEDLINE
| ID: mdl-29542186
ABSTRACT
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3 c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained. This is the first report of molecularly confirmed maternal germinal mosaicism for a SOX9 mutation. We suggest that a meticulous clinical examination of the parents, even if they are superficially healthy, is needed to avoid overlooking germinal mosaicism of SOX9 mutations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación de Línea Germinal
/
Displasia Campomélica
/
Herencia Materna
/
Mosaicismo
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Congenit Anom (Kyoto)
Asunto de la revista:
TERATOLOGIA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Japón