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Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature

Delil, Kenan ; Karabulut, Halil Gürhan ; Hacıhamdioğlu, Bülent ; Şıklar, Zeynep ; Berberoğlu, Merih ; Öçal, Gönül ; Tükün, Ajlan ; Ruhi, Hatice Ilgın

Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.144-149 [Periódico revisado por pares]

Turkey: Galenos Yayinevi Tic. Ltd

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Título:
Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature
Autor: Delil, Kenan ; Karabulut, Halil Gürhan ; Hacıhamdioğlu, Bülent ; Şıklar, Zeynep ; Berberoğlu, Merih ; Öçal, Gönül ; Tükün, Ajlan ; Ruhi, Hatice Ilgın
Assuntos: Adolescent ; Body Height - genetics ; Child ; DNA Mutational Analysis ; Female ; Gene mutation ; Genetic aspects ; Growth Disorders - genetics ; Health aspects ; Homeodomain Proteins - genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Microsatellite Repeats ; Original ; Physiological aspects ; Short stature ; Short Stature Homeobox Protein ; Turkey ; Turks
É parte de: Journal of clinical research in pediatric endocrinology, 2016-06, Vol.8 (2), p.144-149
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: The frequency of mutations in the short stature homeobox (SHOX) gene in patients with idiopathic short stature (ISS) ranges widely, depending mostly on the mutation detection technique and inclusion criteria. We present phenotypic and genotypic data on 38 Turkish patients with ISS and the distinctive features of 1 patient with a SHOX deletion. Microsatellite markers (MSMs) DXYS10092 (GA repeats) and DXYS10093 (CT repeats) were used to select patients for fluorescent in situ hybridisation (FISH) analysis and to screen for deletions in the SHOX gene. The FISH analysis was applied to patients homozygous for at least one MSM. A Sanger sequencing analysis was performed on patients with no deletions according to FISH to investigate point mutations in the SHOX gene. One patient (2.6%) had a SHOX mutation. Although the number of cases was limited and the mutation analysis techniques we used cannot detect all mutations, our findings emphasize the importance of the difference in arm span and height when selecting patients for SHOX gene testing.
Editor: Turkey: Galenos Yayinevi Tic. Ltd
Idioma: Inglês;Turco

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Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature

Delil, Kenan ; Karabulut, Halil Gürhan ; Hacıhamdioğlu, Bülent ; Şıklar, Zeynep ; Berberoğlu, Merih ; Öçal, Gönül ; Tükün, Ajlan ; Ruhi, Hatice Ilgın

Turkey: Galenos Yayinevi Tic. Ltd

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