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  • Title: Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.
    Author: Rodríguez FA, Unanue N, Hernandez MI, Basaure J, Heath KE, Cassorla F.
    Journal: J Pediatr Endocrinol Metab; 2013; 26(7-8):729-34. PubMed ID: 23729538.
    Abstract:
    AIM: 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. METHODS: 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. RESULTS: The molecular-based screening strategy applied in these patients allowed detection of five SHOX deletions and two previously unreported SHOX missense mutations. CONCLUSION: 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.
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