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A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Apr; Vol. 23 (4), pp. 543-6. Date of Electronic Publication: 2014 Jul 02. - Publication Year :
- 2015
-
Abstract
- We identified an identical and recurrent 9.4-Mbp deletion at chromosome bands 2p11.2-2p12, which occurred de novo in two unrelated patients. It is flanked at the distal and proximal breakpoints by two homologous segmental duplications consisting of low copy repeat (LCR) blocks in direct orientation, which have >99% sequence identity. Despite the fact that the deletion was almost 10 Mbp in size, the patients showed a relatively mild clinical phenotype, that is, mild-to-moderate intellectual disability, a happy disposition, speech delay and delayed motor development. Their phenotype matches with that of previously described patients. The 2p11.2-2p12 deletion includes the REEP1 gene that is associated with spastic paraplegia and phenotypic features related to this are apparent in most 2p11.2-2p12 deletion patients, but not in all. Other hemizygous genes that may contribute to the clinical phenotype include LRRTM1 and CTNNA2. We propose a recurrent but rare 2p11.2-2p12 deletion syndrome based on (1) the identical, non-random localisation of the de novo deletion breakpoints in two unrelated patients and a patient from literature, (2) the patients' phenotypic similarity and their phenotypic overlap with other 2p deletions and (3) the presence of highly identical LCR blocks flanking both breakpoints, consistent with a non-allelic homologous recombination (NAHR)-mediated rearrangement.
- Subjects :
- Adolescent
Alleles
Child, Preschool
DNA Copy Number Variations
Developmental Disabilities genetics
Female
Genome-Wide Association Study
Homologous Recombination
Humans
Intellectual Disability genetics
Male
Membrane Proteins genetics
Nerve Tissue Proteins genetics
Oligonucleotide Array Sequence Analysis
Phenotype
alpha Catenin genetics
Chromosomes, Human, Pair 2 genetics
Membrane Transport Proteins genetics
Segmental Duplications, Genomic
Sequence Deletion
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 23
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 24986827
- Full Text :
- https://doi.org/10.1038/ejhg.2014.124