比厄-史蒂文森回状颅皮综合征：FGFR2基因中c.1124C↷G（Y375C）突变的一例新病例。

Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.

作者信息

Fonseca Renata Fragelli, Costa-Lima Marcelo Aguiar, Pereira Eliana Ternes, Castilla Eduardo Enrique, Orioli Iêda Maria

机构信息

ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Avenida Brigadeiro Trompowski s/n, Cidade Universitária, Rio de Janeiro, CEP 21944-970, Brazil.

出版信息

Mol Med Rep. 2008 Sep-Oct;1(5):753-5. doi: 10.3892/mmr_00000024.

DOI:10.3892/mmr_00000024

PMID:21479481

Abstract

Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe a new case of a c.1124C↷G mutation in a BSS patient.

摘要

贝亚里 - 史蒂文森综合征（BSS）（MIM编号：123790）是一种罕见的疾病，其特征为颅面畸形、皮肤回旋症，并伴有肛门生殖器畸形和突出的脐带残端。关于该综合征的报道较少，分子分析显示FGFR2基因内存在两个紧密相邻的突变：c.1115C↷G（p.S372C）和c.1124C↷G（p.Y375C）。我们在此描述了一名贝亚里 - 史蒂文森综合征患者发生c.1124C↷G突变的新病例。