Linked Life Data

9672519

Source:http://linkedlifedata.com/resource/pubmed/id/9672519

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1998-7-29
pubmed:abstractText
Mutations in the tyrosine kinase domain of fibroblast growth factor receptor gene (FGFR3) have been described in some cases of hypochondroplasia (Hch). We screened 65 children with Hch diagnosed by clinical and radiologic criteria for 2 previously described mutations, C1620A and C1620C in FGFR3; 28 (43%) of 65 patients were heterozygous for the C1620A transversion resulting in lysine to asparagine substitution at codon 540 in the tyrosine kinase domain of FGFR3. The height, sitting height, and subischial leg length of these children and of 18 children with achondroplasia were analyzed at presentation, and SD scores were calculated. For comparison of growth data the patients were divided into three groups: group 1, achondroplasia defined by radiology and the presence of the G1138A mutation in the transmembrane domain of FGFR3; group 2, Hch with C1620A mutation; and group 3, Hch with no mutation identified so far. Height, sitting height, and subischial leg length SD scores were analyzed as group mean data by analysis of variance with the Student Neuman-Keuls test after testing for multiple contrasts were performed. All three groups were significantly compromised in height, although the children with achondroplasia were much shorter with significant reduction in subischial leg length. The same pattern was evident in group 2, with additional shortening of the back, the third group was proportionately short. Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood. However, a substantial number of patients with proportionate short stature presented at an older age with the same radiologic characteristics and failure of the puberty growth spurt. The genetic basis of this milder phenotype not yet known.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0022-3476
pubmed:author
pubmed:issnType
Print
pubmed:volume
133
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
99-102
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Genotype and phenotype in hypochondroplasia.
pubmed:affiliation
London Centre of Paediatric Endocrinology, Great Ormond Street Childrens Hospital, United Kingdom.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't