Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature

Citation
J. Musebeck et al., Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature, EUR J PED, 160(9), 2001, pp. 561-565
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
EUROPEAN JOURNAL OF PEDIATRICS
ISSN journal
0340-6199 → ACNP
Volume
160
Issue
9
Year of publication
2001
Pages
561 - 565
Database
ISI
SICI code
0340-6199(200109)160:9<561:SSHGDS>2.0.ZU;2-Z
Abstract
The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients wit h Turner syndrome. Mutations of the SHOX gene can also be responsible for L eri-Weill syndrome (dyschondrosteosis). The aim of this study was to determ ine the frequency of SHOX deletions in short stature children and to deline ate indications for SHOX deletion screening. Out of 50 probands, 35 had idi opathic short stature, 12 cases showed additional anomalies of the forearms (in particular Madelung deformity) and three patients were affected by a c ongenital heart defect. Chromosomal investigations with fluoresence in situ hybridisation did not reveal a SHOX deletion in any patient with idiopathi c short stature. In five of the 12 patients (41.7%) with anomalies of the f orearms, a SHOX deletion on one sex chromosome could be detected. No deleti on was observed in the three cases with additional heart defects. Conclusio n: The frequency of short stature homeobox-containing gene deletions in pat ients with idiopathic short stature appears to be very low and does not req uire a fluorescence in situ hybridisation analysis. Short stature in associ ation with anomalies of the forearms such as Madelung deformity makes a del etion more probable and therefore screening for such deletions is recommend ed in these cases.