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J Pediatr Endocrinol Metab. 2013;26(7-8):729-34. doi: 10.1515/jpem-2013-0023.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

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.

PMID:
23729538
DOI:
10.1515/jpem-2013-0023
[Indexed for MEDLINE]

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