An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report
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Published on: August 15, 2019
Valeria Paganelli1, Mara Giordano2, Cristina Meazza3
1University of Pavia-Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Insights
A small deletion in the CTNNA2 gene on chromosome 2p11.2-p12 was identified in a child with growth failure and speech delay. This finding aids in understanding the function of genes in this critical region.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Deletions in chromosome 2 bands p11 and p12 are associated with short stature, mild intellectual disability, and speech delay.
- These deletions can encompass multiple genes within the 2p11.2-p12 critical region.
Background/Objectives:
Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay.
Results:
We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11.2-p12. We observed that some features (short stature, facial dysmorphisms and speech delay) were present in our patient and in patients carrying much larger overlapping deletions.
Conclusions:
The description of this small intragenic rearrangement might help to elucidate the role of the single genes included in the 2p11.2-p12 critical region.
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