Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

Molecular Cytogenetics

Salvatore Santo Signorelli⁴  Giovanni Sorge⁷  Angela Spalletta³  Silvestra Amata³  Mirella Vinci³  Tiziana Maniscalchi⁵  Ignazio Morana⁶  Valerio Fiore¹  Mariaclara De Grandi²  Lucia Grillo³  Rita Barone²  Marco Fichera³ 

[1] Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy;Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy;Laboratory of Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy;Department of Clinical and Experimental Medicine, Medical Angiology Unit, University of Catania, Catania, Italy;Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy;Internal Medicine Unit, Garibaldi Hospital, Catania, Italy;Department of Clinical and Experimental Medicine, Pediatric Clinic, University of Catania, Catania, Italy

关键词: Inflammatory disease;    Duplication;    CNV;    Intellectual disability;    LAMTOR2;    SEMA4A;    LMNA;    1q22;    CBCL dysregulation syndrome;   

Others  :  1162959
DOI  :  10.1186/s13039-014-0090-7

 received in 2014-09-22, accepted in 2014-11-16,  发布年份 2014

【 摘 要 】

Background

Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted the identification of an increasing number of causative submicroscopic rearrangements throughout the genome, constitutional duplications involving chromosome 1q22 have seldom been described in those patients.

Results

We report on a pedigree with seven affected members showing varying degrees of behavioural and emotional disturbances including general anxiety disorder, mood disorders, and intellectual disability. Two adult female patients also showed late onset autoimmune inflammatory responses characterized by alopecia, skin ulcers secondary to inflammatory vasculitis, interstitial lung disease, and Raynaud’s phenomenon. Array-CGH analysis identified in the affected individuals a 290 Kb microduplication in the chromosome 1q22. The rearrangement involves eleven known genes and is not present in the databases of polymorphic copy number variants.

Conclusions

The rearrangement segregates with the neurological clinical features observed in our patients, suggesting that dosage imbalance of one or more genes in this genomic region may lead to the observed phenotype. The association between the microduplication and the inflammatory disease is much less evident. Additional reported patients carrying similar microduplications are needed to clarify this aspect.

【 授权许可】

   
2014 Fichera et al.; licensee BioMed Central.

【 图 表 】

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