15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism

Genomic rearrangements of chromosome 15q11–q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1–BP2, has been described in patients with delayed motor and speech development and behavioural problems. He...

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Bibliographic Details
Published inGene Vol. 508; no. 1; pp. 92 - 95
Main Authors Madrigal, Irene, Rodríguez-Revenga, Laia, Xunclà, Mar, Milà, Montserrat
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 15.10.2012
Subjects
15q11.2 deletion
Autism
Autistic Disorder - genetics
Child
Chromosome Aberrations
Chromosomes, Human, Pair 15 - genetics
Comparative Genomic Hybridization
CYFIP1
Family
Female
FMR1
Fragile X Mental Retardation Protein - genetics
Humans
Intellectual disabilities
Intellectual Disability - genetics
Male
Mutation - genetics
Real-Time Polymerase Chain Reaction
RNA, Messenger - genetics
15q11.2 deletion
ADHD
Autism
CYFIP1
AS
ASD
array CGH
Intellectual disabilities
FMR1
CNV
ID
PWS
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Summary:Genomic rearrangements of chromosome 15q11–q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1–BP2, has been described in patients with delayed motor and speech development and behavioural problems. Here we report the clinical and molecular characterisation of a maternally inherited BP1–BP2 deletion in two siblings with intellectual, motor and speech delay, autistic syndrome disorder and several dysmorphic features. One of the patients was also a carrier of an FMR1 allele in the low premutation range. The four genes within the deletion were under-expressed in all deletion carriers but FMR1 mRNA levels remained normal. Our results suggest that BP1-BP2 deletion could be considered as a risk factor for neuropsychological phenotypes and that it presents with variable clinical expressivity. ► The 15q11.2 syndrome presents with reduced penetrance and/or variable expressivity. ► 15q11.2 deletion carriers could be at risk of affected offspring. ► Clinical spectrum ranges from behavioural features to developmental and speech delay.
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ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2012.07.023