SHOX gene in Leri-Weill syndrome and in idiopathic short stature

2001 ◽  
Vol 24 (9) ◽  
pp. 737-741 ◽  
Author(s):  
Sergio Bernasconi ◽  
S. Mariani ◽  
C. Falcinelli ◽  
S. Milioli ◽  
L. Iughetti ◽  
...  
Keyword(s):  
Short Stature ◽  
Idiopathic Short Stature ◽  
Shox Gene

scholarly journals Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature

2017 ◽  
Vol 60 (10) ◽  
pp. 327 ◽  
Author(s):  
Abdulla A. Alharthi ◽  
Ehab I. El-Hallous ◽  
Iman M. Talaat ◽  
Hamed A. Alghamdi ◽  
Matar I. Almalki ◽  
...  
Keyword(s):  
Short Stature ◽  
Gene Sequence ◽  
Saudi Arabian ◽  
Idiopathic Short Stature ◽  
Sequence Variants ◽  
Shox Gene

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

2016 ◽  
Vol 8 (2) ◽  
pp. 144-149 ◽  
Author(s):  
Kenan Delil ◽  
Halil Gürhan Karabulut ◽  
Bülent Hacıhamdioğlu ◽  
Zeynep Şıklar ◽  
Merih Berberoğlu ◽  
...  
Keyword(s):  
Short Stature ◽  
Gene Mutations ◽  
Idiopathic Short Stature ◽  
Shox Gene ◽  
Turkish Patients

scholarly journals SHOX gene and conserved noncoding element deletions/duplications in C olombian patients with idiopathic short stature

2013 ◽  
Vol 2 (2) ◽  
pp. 95-102 ◽  
Author(s):  
Gloria Tatiana Vinasco Sandoval ◽  
Giovanna Carola Jaimes ◽  
Mauricio Coll Barrios ◽  
Camila Cespedes ◽  
Harvy Mauricio Velasco
Keyword(s):  
Short Stature ◽  
Idiopathic Short Stature ◽  
Shox Gene

Detection of SHOX gene deletions in Egyptian children with idiopathic short stature using FISH

Meta Gene ◽  
2020 ◽  
Vol 24 ◽  
pp. 100697
Author(s):  
Amr Shujaa-Addin ◽  
Mervat Hashish ◽  
Nahla Nazmy ◽  
Amany Srour ◽  
Ebtesam Abdalla
Keyword(s):  
Short Stature ◽  
Idiopathic Short Stature ◽  
Gene Deletions ◽  
Shox Gene ◽  
Egyptian Children

scholarly journals Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

2017 ◽  
Vol 63 (3) ◽  
pp. 155-158 ◽  
Author(s):  
Anna David ◽  
Imre Zoltán Kun ◽  
Gábor Nyírő ◽  
Zsuzsánna Szántó ◽  
Attila Patócs
Keyword(s):  
Short Stature ◽  
Tanner Stage ◽  
Thyroid Stimulating Hormone ◽  
Idiopathic Short Stature ◽  
Breast Development ◽  
Heterozygous Deletion ◽  
Shox Gene ◽  
Sitting Height ◽  
History Of ◽  
Stage 1

AbstractIntroduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.Case presentation: We present the history of an 11-year-old female patient diagnosed with idiopathic short stature. Clinically, she was moderately disproportionate, with cubitus valgus and palatum ogivale. Her breast development was in Tanner stage 1 at the time of diagnosis. The endocrine diagnostic tests did not reveal any abnormalities except a slightly elevated thyroid stimulating hormone. We have also assessed the bone radiological findings. Multiplex Ligation-dependent Probe Amplification technique used for the identification of SHOX gene haploinsufficiency showed a heterozygous deletion spanning exons 4-5 of SHOX gene.Conclusions: This case is determined by deletions in exons 4-5 of SHOX gene and indicates the necessity of screening for SHOX deletions in patients diagnosed with idiopathic short stature, especially in children having increased sitting height-to-height ratio or decreased extremities-to-trunk ratio.

scholarly journals Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1

2010 ◽  
Vol 95 (6) ◽  
pp. 3010-3018 ◽  
Author(s):  
Barbara D'haene ◽  
Jan Hellemans ◽  
Margarita Craen ◽  
Jean De Schepper ◽  
Koen Devriendt ◽  
...  
Keyword(s):  
Short Stature ◽  
Molecular Diagnostics ◽  
Copy Number ◽  
Quantitative Polymerase Chain Reaction ◽  
Molecular Genetic ◽  
Significant Proportion ◽  
Idiopathic Short Stature ◽  
Pseudoautosomal Region ◽  
Shox Gene ◽  
Copy Number Changes

Abstract Context: Short stature has an incidence of three in 100 in children. Reliable molecular genetic testing may be crucial in the context of beneficial disease management. Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis. Objective: Several shortcomings of current strategies for copy number profiling of the SHOX region prompted us to develop an improved test for molecular diagnostics of the SHOX region. Design and Results: We introduced a quantitative PCR (qPCR)-based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions, i.e. the SHOX gene and regulatory regions. To ensure an optimal sensitivity and specificity, this test was validated in 32 controls and 18 probands with previously identified copy number changes. In addition, 152 probands with SHOX-associated phenotypes were screened, revealing 10 novel copy number changes. Conclusion: This highly validated qPCR test supersedes other approaches for copy number screening of the SHOX region in terms of reliability, accuracy, and cost efficiency. In addition, another strong point is the fact that it can be easily implemented in any standard equipped molecular laboratory. Our qPCR-based test is highly recommended for molecular diagnostics of idiopathic short stature and allied disorders.

scholarly journals A SHOX géndeletio előfordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány

2017 ◽  
Vol 158 (34) ◽  
pp. 1351-1356 ◽  
Author(s):  
Anna Dávid ◽  
Henriett Butz ◽  
Zita Halász ◽  
Dóra Török ◽  
Gábor Nyirő ◽  
...  
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Normal Karyotype ◽  
Idiopathic Short Stature ◽  
Female Dominance ◽  
Shox Gene ◽  
Gene Deficiency ◽  
Sitting Height ◽  
Arm Span ◽  
Gene Alterations

Abstract: Introduction: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2–15% of patients with idiopathic short stature (ISS), in 50–90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome. Aim: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. Method: A total of 144 patients were included in the study. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to identify the SHOX gene haploinsufficiency. The relationships between clinical data (axiological parameters, skeletal disorders, dysmorphic signs) and genotype were analyzed by statistical methods. Results: 11 (7.6%) of the 144 patients showed SHOX gene deficiency with female dominance (8/11, 81% female). The SHOX positive patients had a significantly higher BMI (in 5/11 vs. 20/133 cases, p<0.02) and presented more frequent dysmorphic signs (9/11vs 62/133, p = 0.02). Madelung deformity of the upper limbs was also significantly more frequent among the SHOX positive patients (4/11, i.e. 36%, vs. 14/133, i.e. 10%, p = 0.0066). There were no statistically significant differences between the mean age, mean height and auxological measurements (sitting height/height, arm span/height) between the two groups of patients. Conclusions: The occurrence of SHOX gene haploinsufficiency observed in our population corresponds to the literature data. In SHOX positive patients, in addition to short stature, the dysmorphic signs have a positive predictive value for SHOX gene alterations. However, the SHOX deletion detected in a patient with idiopathic short stature without dysmorphic signs suggest that SHOX deletion analysis can be recommended in patients with ISS. Orv Hetil. 2017; 158(34): 1351–1356.

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

Gene ◽  
2012 ◽  
Vol 491 (2) ◽  
pp. 123-127 ◽  
Author(s):  
K. Hirschfeldova ◽  
R. Solc ◽  
A. Baxova ◽  
J. Zapletalova ◽  
V. Kebrdlova ◽  
...  
Keyword(s):  
Short Stature ◽  
Idiopathic Short Stature ◽  
Shox Gene ◽  
Gene Defects
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