1. High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
- Author
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Anna Ruiz, Lourdes Martorell, Elisabet Vilella, David Torrents-Rodas, Susanna Esteba-Castillo, Lluís Armengol, Marina Viñas-Jornet, Núria Ribas-Vidal, Neus Baena, Miriam Guitart, Elisabeth Gabau, and Ramon Novell
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Adolescent ,DNA Copy Number Variations ,Genotype ,Intellectual disability ,Comorbidity ,Behavioural disorders ,Genetic analysis ,Statistics, Nonparametric ,Young Adult ,03 medical and health sciences ,Genetics ,Humans ,Medicine ,Prospective Studies ,Copy-number variation ,Psychiatry ,Genetics (clinical) ,Ecology, Evolution, Behavior and Systematics ,Oligonucleotide Array Sequence Analysis ,Original Research ,Copy number variants ,Adult patients ,business.industry ,Incidence ,Mental Disorders ,Middle Aged ,medicine.disease ,Co morbid ,Phenotype ,030104 developmental biology ,Spain ,Cohort ,Female ,High incidence ,Psychiatric disorders ,business - Abstract
A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs—including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1—providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services. Electronic supplementary material The online version of this article (10.1007/s10519-018-9902-6) contains supplementary material, which is available to authorized users.
- Published
- 2018
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