Send to

Choose Destination
Mol Genet Genomic Med. 2019 Jul 25:e889. doi: 10.1002/mgg3.889. [Epub ahead of print]

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Author information

Department of Adult Habilitation, Akershus University Hospital, Lorenskog, Norway.
Campus Ahus, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Section for Clinical Molecular Biology, Akershus University Hospital, Lorenskog, Norway.
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Bioinformatics Core Facility, Department of Core Facilities, Institute of Cancer Research, Radium Hospital, Part of Oslo University Hospital, Oslo, Norway.



Genetic risk variants in the hemizygous allele may influence neuropsychiatric manifestations and clinical course in 3q29 deletion carriers.


In-depth phenotypic assessment in two deletion carriers included medical records, medical, genetic, psychiatric and neuropsychological evaluations, brain MRI scan and EEG. Blood samples were analyzed for copy number variations, and deep sequencing of the affected 3q29 region was performed in patients and seven first-degree relatives. Risk variants were identified through bioinformatic analysis.


One deletion carrier was diagnosed with learning difficulties and childhood autism, the other with mild intellectual disability and schizophrenia. EEG abnormalities in childhood normalized in adulthood in both. Cognitive abilities improved during adolescence in one deletion carrier. Both had microcytic, hypochromic erythrocytes and suffered from chronic pain and fatigue. Molecular and bioinformatic analyses identified risk variants in the hemizygous allele that were not present in the homozygous state in relatives in genes involved in cilia function and insulin action in the autistic individual and in synaptic function and neurosteroid transport in the subject with schizophrenia.


3q29 deletion carriers may undergo developmental phenotypic transition and need regular medical follow-up. Identified risk variants in the remaining hemizygous allele should be explored further in autism and schizophrenia research.


3q29 deletion; autistic disorder; cilia; schizophrenia; synaptic function

Free full text

Supplemental Content

Full text links

Icon for Wiley Icon for Norwegian BIBSYS system
Loading ...
Support Center