DELETION OF THE ENTIRE NF1 GENE DETECTED BY FISH - 4 DELETION PATIENTS ASSOCIATED WITH SEVERE MANIFESTATIONS

被引:80
作者
WU, BL
AUSTIN, MA
SCHNEIDER, GH
BOLES, RG
KORF, BR
机构
[1] CHILDRENS HOSP,DIV GENET,BOSTON,MA 02115
[2] CHILDRENS HOSP,DEPT NEUROL,BOSTON,MA 02115
[3] HARVARD UNIV,SCH MED,DEPT PEDIAT,BOSTON,MA 02115
[4] CHILDRENS HOSP LOS ANGELES,DIV MED GENET,LOS ANGELES,CA 90027
[5] UNIV SO CALIF,SCH MED,DEPT PEDIAT,LOS ANGELES,CA 90033
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 59卷 / 04期
关键词
NF1; FISH; NF1 GENE DELETION; NEUROFIBROMAS; MENTAL RETARDATION; LEARNING DISABILITY; DEVELOPMENTAL DELAY; FACIAL ANOMALIES;
D O I
10.1002/ajmg.1320590427
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genetic analysis of NF1 has indicated a wide diversity of mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations, Recently, five severely affected individuals have been found by Kayes et al, [1994] to have deletions encompassing the entire gene, These deletions were detected by quantitative Southern analysis, To simplify deletion detection, we have employed fluorescence in situ hybridization (FISH) using intragenic probes, Thirteen unrelated individuals with NF1 have been studied, Among six with severe manifestations, four have been found to have deletions detected by probes cFF13, cFB5D, cP5, yA43A9, yA113D7 and yD8F4, All four deletion patients have severe developmental delay, minor and major anomalies (including one with bilateral iris colobomas), and multiple cutaneous neurofibromas or plexiform neurofibromas which were present before age 5 years, FISH provides a simple and rapid means of identification of NF1 gene deletions and will allow more rigorous testing of the hypothesis that such deletions are associated with severe manifestations. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:528 / 535
页数:8
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