An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report

Abstract

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.

Linear interaction between replication and transcription shapes DNA break dynamics at recurrent DNA break Clusters

“…For instance, at the Npas3 locus, a 700 kb intragenic interval exists between Dcen and Dtel peaks. Fusing one Dcen and one Dtel within the Npas3 gene could result in a critical exon deletion, a genomic alteration strongly associated with conditions like autistic spectrum disorder, schizophrenia, and glioblastomas in humans 42 . Such deletions could emerge at a somatic level during replication stress in NPCs.…”

Linear Interaction Between Replication and Transcription Shapes DNA Break Dynamics at Recurrent DNA Break Clusters

“…For instance, at the Ctnna2 locus, a 160 kb intragenic interval exists between Dcen and Dtel peaks. The fusion of one Dcen and one Dtel within the Ctnna2 gene could result in a critical exon deletion, a genomic alteration strongly associated with conditions like autistic spectrum disorder and schizophrenia in humans 36 . Such deletions could potentially emerge at a somatic level during replication stress in NPCs.…”