A GENETIC-STUDY OF TYPE-2 NEUROFIBROMATOSIS IN THE UNITED-KINGDOM .1. PREVALENCE, MUTATION-RATE, FITNESS, AND CONFIRMATION OF MATERNAL TRANSMISSION EFFECT ON SEVERITY
A GENETIC-STUDY OF TYPE-2 NEUROFIBROMATOSIS IN THE UNITED-KINGDOM .1. PREVALENCE, MUTATION-RATE, FITNESS, AND CONFIRMATION OF MATERNAL TRANSMISSION EFFECT ON SEVERITY
复制标题
DOI：
10.1136/jmg.29.12.841
复制
发表时间：
1992-12-01
影响因子：
4
通讯作者：
HARRIS, R
中科院分区：
文献类型：
--
作者：
EVANS, DGR;HUSON, SM;HARRIS, R
2型神经纤维瘤病（NF 2）的临床和遗传学研究已在英国进行。英格兰西北部的病例几乎完全确定，表明人口发病率为1/33000至40000。在整个英国，已发现150例病例并用于研究NF 2的临床和遗传特征。NF 2的常染色体显性遗传得到证实，49%的病例被评估为代表新的突变，突变率估计为6.5 × 10 - 6。支持母亲基因效应的证据发现，发病年龄为18.17岁，36例母系遗传病例和24.5岁，20例父系遗传病例（p = 0.027）。母系遗传病例的优势也很显著（p = 0.03）。数据表明，有两种类型的NF 2，一种是晚发病和双边前庭神经鞘瘤作为唯一的常见功能，和其他早期发病和多个其他肿瘤。相当多的病例不容易归入一组或另一组，需要考虑其他因素，如母亲对严重程度和预期的影响。
A clinical and genetic study of type 2 neurofibromatosis (NF2) has been carried out in the United Kingdom. Virtually complete ascertainment of cases in the north-west of England was achieved and suggests a population incidence of 1 in 33 000 to 40 000. In the UK as a whole, 150 cases have been identified and been used to study the clinical and genetic features of NF2. The autosomal dominant inheritance of NF2 was confirmed, 49% of cases were assessed as representing new mutations, and the mutation rate was estimated to be 6.5 x 10(-6). Evidence to support a maternal gene effect was found in that age at onset was 18.17 years in 36 maternally inherited cases and 24.5 in 20 paternally inherited cases (p = 0.027). The preponderance of maternally inherited cases was also significant (p = 0.03). Data are presented which suggest that there are two types of NF2, one with later onset and bilateral vestibular schwannomas as the only usual feature, and the other with earlier onset and multiple other tumours. A considerable number of cases did not fall easily into one or other group and other factors such as maternal effect on severity and anticipation need to be considered.