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.
We are grateful to the patients and their families for helping us to carry out this study. We thank all clinicians (Drs. Vivian Gallardo, Carolina Sepulveda, Ximena Gaete, Roberto García, Ana Rocha and Paulina Merino) and technical assistants (Patricia López, Alejandra Ávila, Verónica Maturana and Clara Aguilera) who collaborated with this study. We thank Dr. Sara Benito-Sanz and Dr. Angel Campos Barros for their valuable help.
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