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. 2016 Jun 5;8(2):144-9.
doi: 10.4274/jcrpe.2307. Epub 2015 Dec 18.

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

Kenan Delil  1 , Halil Gürhan Karabulut, Bülent Hacıhamdioğlu, Zeynep Şıklar, Merih Berberoğlu, Gönül Öçal, Ajlan Tükün, Hatice Ilgın Ruhi
Affiliations

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

Kenan Delil et al. J Clin Res Pediatr Endocrinol. .

Abstract

Objective: 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.

Methods: 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.

Results: One patient (2.6%) had a SHOX mutation.

Conclusion: 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.

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Figures

Figure 1
Figure 1. Schematic presentation of SHOX gene, SHOX fluorescent in situ hybridisation probe, and microsatellite markers DXYS10092 and DXYS10093 (according to Human GenomeAssembly GRCh38). FISH: fluorescent in situ hybridisation
Figure 2
Figure 2. Height, upper segment/lower segment ratio, arm span-height difference and extremities-trunk ratio representations together with standard deviation score for all patients. Males are illustrated by square, whereas females by round. Patients lined up in order to patient number from left to right. Grey colour for P6, black for P9, red for P12, green for P13, yellow for P14, brown for P21,purple for P25, pink for P32. US: upper segment, LS: lower segment, ETR: extremities-trunk ratio
Figure 3
Figure 3. (a and b) Fluorescent in situ hybridisation images from P12 and P20. P20 showed two blue and two red signals meaning normal female. P12 showed two blue but 1 red signal meaning SHOX gene deletion (right). Probe specification: SHOX probe; Xp22.33/Yp11.2, (Red)/DYZ1 probe; Yq12, (Green) and DXZ1 probe; Xp11.1-q11.1, (Blue)
Figure 4
Figure 4. Hand and forearm radiography of the patient with SHOX deletion (P12) showing minimal bowing and mild wedging of the radius
See this image and copyright information in PMC

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