ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS WITH A MUTATION IN THE NF1 GENE

被引：49

作者：

LEGIUS, E ^{[1
]}

WU, R ^{[1
]}

EYSSEN, M ^{[1
]}

MARYNEN, P ^{[1
]}

FRYNS, JP ^{[1
]}

CASSIMAN, JJ ^{[1
]}

机构：

[1] UNIV HOSP LEUVEN,DEPT PAEDIAT,LOUVAIN,BELGIUM

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 04期

关键词：

D O I：

10.1136/jmg.32.4.316

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions, lipomas, and ipsilateral thalmological and cerebral formations. The disorder is thought to represent a localised form of Proteus syndrome. In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type 1 (NF1) gene. Although it is possible that both ECCL and NF1 occur coincidentally in this patient, we favour the hypothesis that in exceptional cases a mutation in the NF1 gene might give rise to severe congenital malformations such as ECCL. Possible pathogenetic mechanisms for these malformations are discussed.

引用

页码：316 / 319

页数：4

共 28 条

[1]

AHLGRENBECKENDO.JA, 1993, BIOCHEM BIOPH RES CO, V197, P1019

[2] THE MULTIPLE MANIFESTATIONS OF THE ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS SYNDROME [J].