Molecular and Clinical Analyses with Neuropsychological Assessment of a Case of del(10)(q26.2qter) without Intellectual Disability: Genomic and Transcriptomic Combined Approach and Review of the Literature

作者：Laudier Beatrice; Epiais Tiphanie; Paris Arnaud; Menuet Arnaud; Briault Sylvain; Ozsancak Canan; Perche Olivier^*

来源：American Journal of Medical Genetics, Part A, 2016, 170(7): 1806-1812.

DOI：10.1002/ajmg.a.37677

• 10q26.2qter
• intellectual disability
• DOCK1
• combined genomic and transcriptomic approach

Terminal deletion of the long arm of the chromosome 10 is a rare but well known abnormality, with a large phenotypic variability. Very few data are available about subtelomeric deletion 10q26 patients without intellectual disability. Herein, we report the case of a young adult with a classical 10q26.2qter deletion. She exhibited mainly short stature at birth and in childhood/adulthood without intellectual disability or behavioral problems. After clinical and neuropsychological assessments, we performed genomic array and transcriptomic analysis and compared our results to the data available in the literature. The patient presents a 6.525 Mb heterozygous 10q26.2qter deletion, encompassed 48 genes. Among those genes, DOCK1, C10orf90, and CALY previously described as potential candidate genes for intellectual disability, were partially or completed deleted. Interestingly, they were not deregulated as demonstrated by transcriptomic analysis. This allowed us to suggest that the mechanism involved in the deletion 10qter phenotype is much more complex that only the haploinsufficiency of DOCK1 or other genes encompassed in the deletion. Genomic and transcriptomic combined approach has to be considered to understand this pathogenesis.

• 出版日期2016-7