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 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.

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 Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature

2003 ◽  
Vol 88 (10) ◽  
pp. 4891-4896 ◽  
Author(s):  
Gerhard Binder ◽  
Michael B. Ranke ◽  
David D. Martin
Keyword(s):  
Short Stature ◽  
De Novo ◽  
Fragment Size ◽  
Mutation Screening ◽  
Idiopathic Short Stature ◽  
Paternal Allele ◽  
Leg Length ◽  
Sitting Height ◽  
Arm Span ◽  
Hand Radiography

Abstract SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mutations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children. We recruited 140 children (61 girls), in our clinic, with idiopathic short stature, which was defined by the presence of normal IGF-I and free T4; a normal karyotype in females; the absence of endomysium antibodies, of chronic organic, psychological, or syndromatic disease; and by the lack of clear signs of any osteodysplasia. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Two highly polymorphic microsatellite markers located around the SHOX coding region (CA-SHOX repeat and DXYS233) were PCR-amplified with fluorescent primers and separated in an automatic sequencing machine. Analysis of parental DNA was performed in the probands who had only one fragment size of each of both markers. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in three probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxological data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height, when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the three SHOX haploinsufficient probands, in comparison with the whole group. This observation was confirmed with the auxological data of five additional patients (four females) previously diagnosed with SHOX haploinsufficiency; all but the youngest girl had height-adjusted extremities-trunk ratios more than 1 sd below the mean. All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Our observations suggest that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 + 1/2 height (m) and to add a critical judgment of the hand radiography.

scholarly journals Turner's Syndrome: Approach to Diagnosis and Treatment

2018 ◽  
Vol 13 (3) ◽  
pp. 61-62
Author(s):  
Sadhana Sah ◽  
Ganesh Dangal ◽  
Aruna Karki ◽  
Hema Pradhan ◽  
Ranjana Shrestha ◽  
...  
Keyword(s):  
Short Stature ◽  
Estrogen Therapy ◽  
Tanner Stage ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Secondary Sexual Characteristics ◽  
Karyotypic Abnormality ◽  
Sexual Characteristics

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO). We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II. Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

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 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.

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