Kapoor Seema, Mukherjee Sharmila Banerjee, Arora Ritu, Shroff Daraius
Division of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, Bahadur Shah Zafar Marg, New Delhi, India.
Indian J Pediatr. 2008 Jun;75(6):635-7. doi: 10.1007/s12098-008-0122-6. Epub 2008 Aug 31.
A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL), a recently identified gene.
一名10岁男孩，其父母无血缘关系，出现视力障碍、身材矮小和智力发育迟缓。彼得斯异常、智力发育迟缓、不成比例的身材矮小、骨骼异常以及独特的面部特征（宽额头、内眦距过宽、丘比特弓状上唇）的存在确立了彼得斯加综合征的诊断。对其基因组DNA的分析显示，β1,3-半乳糖基转移酶样基因（B3GALTL）存在纯合缺失，这是一个最近才发现的基因。
