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The human SHOX mutation database
Author(s) -
Niesler Beate,
Fischer Christine,
Rappold Gudrun A.
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10125
Subject(s) - biology , genetics , database , short stature , turner syndrome , gene , mutation , idiopathic short stature , phenotype , gene mutation , computer science , growth hormone , hormone , endocrinology , biochemistry
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. Hum Mutat 20:338–341, 2002. © 2002 Wiley‐Liss, Inc.