15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism |
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Authors: | Irene Madrigal Laia Rodríguez-Revenga Mar Xunclà Montserrat Milà |
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Institution: | 1. CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain;2. Biochemistry and Molecular Genetics Department, Hospital Clínic and IDIBAPS, Barcelona, Spain |
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Abstract: | 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. |
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Keywords: | ID intellectual delay PWS Prader&ndash Willi syndrome AS Angelman syndrome ADHD attention deficit hyperactivity disorder ASD autistic spectrum disorder array CGH array-based comparative genomic hybridisation CNV copy number variants |
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