2026-07-23T20:34:43Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/140592025-03-12T09:48:16Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5713

00925njm 22002777a 4500 dc Carrascosa-Romero, Mª Carmen author Barros-Angueira, Francisco author Castillo-Serrano, Ana author Fernández-Córdoba, Mª Sol author Sorli García, Moisés author Quintanilla-Mata, Mª Luisa author 2009-10 Mowat-Wilson syndrome –MWS- (MIM 235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 (Zinc finger E-box-binding homeobox 2 gene) gene, that codifies the SIP1 (Smad interacting protein 1) localized within the 2q22-q23 chromosomal region. It conforms a syndrome of multiple congenital anomalies, characterized by a typical facial phenotype, moderate to severe mental retardation, epilepsy and different congenital malformations including Hirschsprung disease, congenital cardiopathy, agenesis of the corpus callosum, genitourinary and eye anomalies. We present a patient suffering MWS with a heterozigotic deletion of a base in the 461 position of the codifying sequence for the ZFB2 gene, corresponding to the codon 157, which alters the reading frame and causes the appearance of a stopping codon, 17 positions later. Genotype: c.461 delA (p.Glu157GlufsX17)/normal. This mutation does not appear described in the literature but its presence justifies the reported clinical manifestations. The genetic studies performed to the parents were normal, confirming a de novo mutation. Boletín del ECEMC: Rev Dismor Epidemiol 2009; V (nº 8): 9-17 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/14059 Síndrome de Mowat-Wilson con una deleción en el gen ZEB2 no descrita previamente