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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.
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2019 (English)In: Molecular genetics & genomic medicine, ISSN 2324-9269, article id e1013Article in journal (Refereed) Epub ahead of print
Abstract [en]

BACKGROUND: Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical features. For many genetic loci affected by deletions in individuals with NDDs, reciprocal duplications have been described. However, for the 12q12 region, there are no detailed descriptions of duplication cases in the literature.

METHODS: We report a phenotypic description of a family with monozygotic twins diagnosed with NDDs, carrying a 9 Mb duplication at 12q12, and five other individuals with overlapping duplications ranging from 4.54 Mb up to 15.16 Mb.

RESULTS: The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder. Additionally, distinct facial features (e.g., high foreheads, deeply set eyes, short palpebral fissures, small ears, high nasal bridges, abnormalities of the nose tip, thin lips), large feet, and abnormalities in the digits were noted. We also describe incomplete penetrance of the NDD phenotypes among the individuals with 12q12 duplication.

CONCLUSION: This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing NDDs.

Place, publisher, year, edition, pages
2019. article id e1013
Keywords [en]
ADHD, autism spectrum disorder, chromosome 12, duplication, phenotype
National Category
Psychiatry
Identifiers
URN: urn:nbn:se:uu:diva-397168DOI: 10.1002/mgg3.1013PubMedID: 31730283OAI: oai:DiVA.org:uu-397168DiVA, id: diva2:1370670
Available from: 2019-11-16 Created: 2019-11-16 Last updated: 2019-11-16

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