Rodríguez Fernando Adrián, Unanue Nancy, Hernandez María Isabel, Basaure Javiera, Heath Karen Elise, Cassorla Fernando
J Pediatr Endocrinol Metab. 2013;26(7-8):729-34. doi: 10.1515/jpem-2013-0023.
Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis.
Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions. High resolution melting and sequencing was employed to screen for mutations in SHOX coding exons.
The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations.
Molecular studies confirmed the clinical diagnosis of LWD in seven out of 12 patients, which provided support for therapeutic decisions and improved genetic counseling in their families.
莱里-韦伊软骨发育不全（LWD）是一种中肢发育异常，身材不成比例矮小，与含矮小同源框基因（SHOX）单倍剂量不足相关。本研究的目的是通过分子分析改善疑似LWD患者的诊断。
对11个临床诊断为LWD的家庭中的12名患者进行多重连接依赖探针扩增分析，以检测SHOX及其增强子区域的缺失和重复。采用高分辨率熔解曲线分析和测序来筛查SHOX编码外显子中的突变。
应用于这些患者的基于分子的筛查策略检测到5个SHOX缺失和2个先前未报道的SHOX错义突变。
分子研究证实12例患者中有7例临床诊断为LWD，这为治疗决策提供了支持，并改善了其家族的遗传咨询。
