Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects


Autoria(s): JAILLARD, Sylvie; ANDRIEUX, Joris; PLESSIS, Ghislaine; KREPISCHI, Ana C. V.; LUCAS, Josette; DAVID, Veronique; BRUN, Marine Le; BERTOLA, Debora R.; DAVID, Albert; BELAUD-ROTUREAU, Marc-Antoine; MOSSER, Jean; LAZARO, Leila; TREGUIER, Catherine; ROSENBERG, Carla; ODENT, Sylvie; DUBOURG, Christele
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

20/10/2012

20/10/2012

2011

Resumo

Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies), with proximal 5q deletions identified by oligo array-CGH. The deletions range from 5.75 to 17.26-Mb in size and occurred de novo. A common 2.63-Mb region between the deletions described here can be defined in 5q12.1 (59,390,122-62,021,754 bp bp from 5pter, hg18) and includes 12 genes. Among them, KIF2A, which encodes a kinesin superfamily protein, is a particularly interesting candidate for the phenotype, as it suppresses the growth of axonal collateral branches and is involved in normal brain development. Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations. (C) 2011 Wiley-Liss, Inc.

Identificador

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.155A, n.4, p.725-731, 2011

1552-4825

http://producao.usp.br/handle/BDPI/27476

10.1002/ajmg.a.33758

http://dx.doi.org/10.1002/ajmg.a.33758

Idioma(s)

eng

Publicador

WILEY-BLACKWELL

Relação

American Journal of Medical Genetics Part A

Direitos

restrictedAccess

Copyright WILEY-BLACKWELL

Palavras-Chave #array-CGH #mental retardation #5q12.1 deletion #ocular anomalies #KIF2A gene #KINESIN SUPERFAMILY PROTEIN #INTERSTITIAL DELETION #CONGENITAL FIBROSIS #COPY-NUMBER #LONG ARM #CHROMOSOME-5 #KIF2A #FAMILY #GENE #Genetics & Heredity
Tipo

article

original article

publishedVersion