title: The novel human SHOX allelic variant database.
abstract: Short stature due to SHOX deficiency represents the most commonly known form of growth failure, with a frequency greater than 1:1,000 in the Caucasian population. As many different mutations can cause SHOX haploinsufficiency, a comprehensive collection of gene variants represents an essential tool to distinguish between functional variants and polymorphisms. We have created a novel and widely extended SHOX database using the "LOVD in a box-solution." This database contains not only a larger amount of mutation data (140 novel mutations were added), but also reports on phenotypic consequences, mode of inheritance, and ethnic origin, as well as on functional consequences of mutations investigated. In addition, the database now includes non-disease-related polymorphisms to enable researchers to evaluate their diagnostic findings. The database (Available at: http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/index.php?select_db=SHOX; Last accessed: 12 April 2007) contains all presently known 199 intragenic mutations (SNPs as well as small deletions and insertions), 126 of which are unique. The remote user is able to search the data and to submit new mutations into the database. Furthermore, it includes general information about the SHOX gene via links to other resources such as MIM, GDB, HGMD, and HAPMAP, as well as websites of Short Stature Associations.
authors.affiliation: Department of Human Molecular Genetics, University of Heidelberg, Heidelberg, Germany.
authors.forename: Beate
authors.initials: B
authors.lastname: Niesler
authors.forename: Ralph
authors.initials: R
authors.lastname: Röth
authors.forename: Steffi
authors.initials: S
authors.lastname: Wilke
authors.forename: Frank
authors.initials: F
authors.lastname: Fujimura
authors.forename: Christine
authors.initials: C
authors.lastname: Fischer
authors.forename: Gudrun
authors.initials: G
authors.lastname: Rappold
mesh_terms: D000483:Alleles; D030541:Databases, Genetic; D005091:Exons; D005787:Gene Frequency; D014644:Genetic Variation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D000074122:Short Stature Homeobox Protein; D014584:User-Computer Interface
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein