The short arm of chromosome 16 is one of the less stable regions of our genome, as over 10% of the euchromatic region of 16p is composed of highly complex low copy repeats that are known to be predisposed to rearrangements mediated by non-allelic homologous recombination. The 16p13.3p13.13 molecular region has been defined as the 16p duplication hotspot, and duplications of chromosome 16p13 have recently been confirmed to cause a recognizable syndrome, with CREBBP being the main phenotype-causing gene. To date, only one case report is present in the literature with a 16p13 duplication without CREBBP involvement; we describe here a second analogous case with a not previously reported 16p13.2p13.13 microduplication. This paper allows us to better delineate the clinical features of 16p13 microduplications that do not encompass CREBBP and, concurrently, to narrow the molecular region responsible for congenital heart defects in 16p duplications as well as to propose GRIN2A as a candidate gene for epilepsy.

16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation / C. Ciaccio, A. Tucci, G. Scuvera, M. Estienne, S. Esposito, D. Milani. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - 60:3(2017 Mar), pp. 159-162.

16p13 microduplication without CREBBP involvement : moving toward a phenotype delineation

C. Ciaccio;A. Tucci;G. Scuvera;S. Esposito;D. Milani
2017-03

Abstract

The short arm of chromosome 16 is one of the less stable regions of our genome, as over 10% of the euchromatic region of 16p is composed of highly complex low copy repeats that are known to be predisposed to rearrangements mediated by non-allelic homologous recombination. The 16p13.3p13.13 molecular region has been defined as the 16p duplication hotspot, and duplications of chromosome 16p13 have recently been confirmed to cause a recognizable syndrome, with CREBBP being the main phenotype-causing gene. To date, only one case report is present in the literature with a 16p13 duplication without CREBBP involvement; we describe here a second analogous case with a not previously reported 16p13.2p13.13 microduplication. This paper allows us to better delineate the clinical features of 16p13 microduplications that do not encompass CREBBP and, concurrently, to narrow the molecular region responsible for congenital heart defects in 16p duplications as well as to propose GRIN2A as a candidate gene for epilepsy.
16p13 microduplication; Epilepsy; GRIN2A; Genotype-phenotype correlation; Abnormalities, Multiple; CREB-Binding Protein; Child; Chromosomes, Human, Pair 16; Epilepsy; Female; Gene Duplication; Genetic Predisposition to Disease; Heart Defects, Congenital; Humans; Receptors, N-Methyl-D-Aspartate
Settore MED/38 - Pediatria Generale e Specialistica
EUROPEAN JOURNAL OF MEDICAL GENETICS
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/490698
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