The human SHOX mutation database.
ABSTRACT The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syndrome. So far, the database contains 29 unique intragenic mutations of the SHOX gene. These mutations were detected in a total of 39 patients from different families. Fourteen of these mutations have been found from the SHOX research group at the Institute of Human Genetics in Heidelberg, Germany; 25 mutations are from data reported in the literature. Not included in this database are complete SHOX gene deletions which represent the majority of all detectable SHOX mutations [Rappold et al., 2002]. The database is accessible via the website www.shox.uni-hd.de. It contains general information about the SHOX gene, and allows remote users to search the data and to submit new mutations to the database.
- SourceAvailable from: Karen E Heath[Show abstract] [Hide abstract]
ABSTRACT: 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.Journal of pediatric endocrinology & metabolism: JPEM 05/2013; · 0.75 Impact Factor
Article: [Genetics and the SHOX gene].Archives de Pédiatrie 07/2004; 11(6):555-6. · 0.36 Impact Factor
- Indian Journal of Human Genetics 09/2008; 14(3):75-6.