Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
Eur J Hum Genet
; 7(2): 131-9, 1999.
Article
in En
| MEDLINE
| ID: mdl-10196695
ABSTRACT
Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Angelman Syndrome
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Eur J Hum Genet
Year:
1999
Document type:
Article