Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
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.
Moncla
A
A
Département de Génétique Médicale, Hôpital des Enfants de la Timone, Marseille, France. amoncla@ap.hm-fr
Malzac
P
P
Voelckel
M A
MA
Auquier
P
P
Girardot
L
L
Mattei
M G
MG
Philip
N
N
Mattei
J F
JF
Lalande
M
M
Livet
M O
MO
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D017204:Angelman Syndrome / Q000235:genetics* / Q000503:physiopathology*; D001827:Body Height; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D003142:Communication; D004827:Epilepsy; D005838:Genotype; D006801:Humans; D007804:Language Development; D008297:Male; D010641:Phenotype; D016138:Walking