Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications. Issue 1 (15th November 2019)

• Record Type: Journal Article
• Authors: Myers, Lynnea; Blyth, Moira; Moradkhani, Kamran; Hranilović, Dubravka; Polesie, Sam; Isaksson, Johan; Nordgren, Ann; Bucan, Maja; Vincent, Marie; Bölte, Sven; Anderlid, Britt‐Marie; Tammimies, Kristiina
• Is Part Of: Molecular genetics & genomic medicine. Volume 8:Issue 1(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-11-15
• Subjects: ADHD -- autism spectrum disorder -- chromosome 12 -- duplication -- phenotype; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1013
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: 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. Abstract : We report phenotype descriptions of seven individuals with variable size duplication of 12q12 4.54 Mb up to 15.16 Mb. The duplication carriers had language delays, cognitive delays, and were diagnosed with autism spectrum disorder as well as distinct facial features. This case series expands our knowledge on this rare genetic aberration and suggests that large 12q12 duplications may increase the risk for developing neurodevelopmental disorders.