Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
Neurogenetics
; 13(4): 341-5, 2012 Nov.
Article
en En
| MEDLINE
| ID: mdl-22949144
ABSTRACT
The occurrence of epilepsy with mental retardation limited to females (EFMR; MIM 300088) has been recently associated to mutations in the PCDH19 gene, located on chromosome X and encoding for protocadherin 19. EFMR shows a rare X-linked inheritance wherein affected females may be segregating a mutation through unaffected transmitting males (Fabisiak and Erickson Clin Genet 38(5)353-358, 1990; Juberg and Hellman J Pediatr 79726-732, 1971; Ryan et al. Nat Genet 17(1)92-95, 1997). The description of a pedigree segregating PCDH19 mutations from unaffected mothers to patients (Depienne et al. Hum Mutat 32E1959-1975, 2011; Dibbens et al. Neurology 761514-1519, 2011) complicates disease inheritance and genetic counseling. In the present study, we describe a PCDH19 mutation segregating from an asymptomatic mother to an EFMR patient. In order to correlate the healthy phenotype with the genotype of the transmitting mother, we quantified in a few tissues the level of the mutant allele by real-time PCR, disclosing a somatic mosaicism. This finding has a great impact on genetic counseling.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Linaje
/
Cadherinas
/
Penetrancia
/
Mutación Missense
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Enfermedades Genéticas Ligadas al Cromosoma X
/
Epilepsia
/
Discapacidad Intelectual
/
Mosaicismo
Límite:
Adult
/
Child
/
Female
/
Humans
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Italia