A mosaic 2q24.2 deletion narrows the critical region to a 0.4Mb interval that includes TBR1, TANK, and PSMD14

作者：Burrage Lindsay C; Eble Tanya N; Hixson Patricia M; Roney Erin K; Cheung Sau W; Franco Luis M^*

来源：American Journal of Medical Genetics, Part A, 2013, 161A(4): 841-844.

DOI：10.1002/ajmg.a.35751

• 2q24
• deletion
• intellectual disability
• mosaicism
• comparative genomic hybridization
• chromosome 2

Interstitial deletions involving 2q24 have been associated with a wide range of phenotypes including intellectual disability and short stature. To date, the smallest common region among reported cases of deletions in this region is approximately 2.65Mb and contains 15 genes. In the present case report, we describe an 18-year-old male with mild intellectual disability, short stature, and mosaicism for a 0.422Mb deletion on 2q24.2 that was diagnosed by comparative genomic hybridization and confirmed with fluorescent in situ hybridization (FISH). This deletion, which is present in approximately 61% of cells, includes three genes: TBR1, TANK, and PSMD14. The findings suggest that the critical region for intellectual disability and short stature in 2q24.2 can be narrowed to a 0.422Mb segment. TBR1, a transcription factor involved in early cortical development, is a strong candidate for the intellectual disability phenotype seen in our patient and in patients with larger deletions in this region of the genome.

• 出版日期2013-4