Slager Rebecca E, Newton Tiffany Lynn, Vlangos Christopher N, Finucane Brenda, Elsea Sarah H
Genetics Graduate Program, S-320 Plant Biology Building, Michigan State University, East Lansing, Michigan 48823, USA.
Nat Genet. 2003 Apr;33(4):466-8. doi: 10.1038/ng1126. Epub 2003 Mar 24.
Smith-Magenis syndrome (SMS) is a mental retardation syndrome associated with deletions involving chromosome 17p11.2. Persons with SMS have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. We identified dominant frameshift mutations leading to protein truncation in RAI1 in three individuals who have phenotypic features consistent with SMS but do not have 17p11.2 deletions detectable by standard fluorescence in situ hybridization techniques.
史密斯-马吉尼斯综合征（SMS）是一种与17号染色体p11.2缺失相关的智力发育迟缓综合征。患有SMS的人具有特征性的行为异常，包括自伤行为和睡眠障碍，以及明显的颅面和骨骼异常。我们在三名个体中鉴定出导致RAI1蛋白截短的显性移码突变，这些个体具有与SMS一致的表型特征，但通过标准荧光原位杂交技术检测不到17p11.2缺失。
