A SHOX géndeletio elofordulása idiopathiás alacsonynövésben

Multicentrikus tanulmány

Translated title of the contribution: The prevalence of SHOX gene deletion in children with idiopathic short stature: A multicentric study

Dávid Anna, Butz Henriett, Halász Zita, Török Dóra, Nyiro Gábor, Muzsnai Ágota, Csákváry Violetta, Luczay Andrea, Sallai Ágnes, Hosszú Éva, Felszeghy Eniko, Tar Attila, Szántó Zsuzsanna, Fekete Gy LászlÓ, Kun Imre, A. Patócs, Bertalan Rita

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageHungarian
Pages (from-to)1351-1356
Number of pages6
JournalOrvosi Hetilap
Volume158
Issue number34
DOIs
Publication statusPublished - Aug 1 2017

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Gene Deletion
Haploinsufficiency
Genes
Turner Syndrome
Multiplex Polymerase Chain Reaction
Karyotype
Gene Frequency
Upper Extremity
Arm
Genotype
Phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Anna, D., Henriett, B., Zita, H., Dóra, T., Gábor, N., Ágota, M., ... Rita, B. (2017). A SHOX géndeletio elofordulása idiopathiás alacsonynövésben: Multicentrikus tanulmány. Orvosi Hetilap, 158(34), 1351-1356. https://doi.org/10.1556/650.2017.30829

A SHOX géndeletio elofordulása idiopathiás alacsonynövésben : Multicentrikus tanulmány. / Anna, Dávid; Henriett, Butz; Zita, Halász; Dóra, Török; Gábor, Nyiro; Ágota, Muzsnai; Violetta, Csákváry; Andrea, Luczay; Ágnes, Sallai; Éva, Hosszú; Eniko, Felszeghy; Attila, Tar; Zsuzsanna, Szántó; LászlÓ, Fekete Gy; Imre, Kun; Patócs, A.; Rita, Bertalan.

In: Orvosi Hetilap, Vol. 158, No. 34, 01.08.2017, p. 1351-1356.

Research output: Contribution to journalArticle

Anna, D, Henriett, B, Zita, H, Dóra, T, Gábor, N, Ágota, M, Violetta, C, Andrea, L, Ágnes, S, Éva, H, Eniko, F, Attila, T, Zsuzsanna, S, LászlÓ, FG, Imre, K, Patócs, A & Rita, B 2017, 'A SHOX géndeletio elofordulása idiopathiás alacsonynövésben: Multicentrikus tanulmány', Orvosi Hetilap, vol. 158, no. 34, pp. 1351-1356. https://doi.org/10.1556/650.2017.30829
Anna D, Henriett B, Zita H, Dóra T, Gábor N, Ágota M et al. A SHOX géndeletio elofordulása idiopathiás alacsonynövésben: Multicentrikus tanulmány. Orvosi Hetilap. 2017 Aug 1;158(34):1351-1356. https://doi.org/10.1556/650.2017.30829
Anna, Dávid ; Henriett, Butz ; Zita, Halász ; Dóra, Török ; Gábor, Nyiro ; Ágota, Muzsnai ; Violetta, Csákváry ; Andrea, Luczay ; Ágnes, Sallai ; Éva, Hosszú ; Eniko, Felszeghy ; Attila, Tar ; Zsuzsanna, Szántó ; LászlÓ, Fekete Gy ; Imre, Kun ; Patócs, A. ; Rita, Bertalan. / A SHOX géndeletio elofordulása idiopathiás alacsonynövésben : Multicentrikus tanulmány. In: Orvosi Hetilap. 2017 ; Vol. 158, No. 34. pp. 1351-1356.
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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.",
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author = "D{\'a}vid Anna and Butz Henriett and Hal{\'a}sz Zita and T{\"o}r{\"o}k D{\'o}ra and Nyiro G{\'a}bor and Muzsnai {\'A}gota and Cs{\'a}kv{\'a}ry Violetta and Luczay Andrea and Sallai {\'A}gnes and Hossz{\'u} {\'E}va and Felszeghy Eniko and Tar Attila and Sz{\'a}nt{\'o} Zsuzsanna and L{\'a}szl{\'O}, {Fekete Gy} and Kun Imre and A. Pat{\'o}cs and Bertalan Rita",
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T1 - A SHOX géndeletio elofordulása idiopathiás alacsonynövésben

T2 - Multicentrikus tanulmány

AU - Anna, Dávid

AU - Henriett, Butz

AU - Zita, Halász

AU - Dóra, Török

AU - Gábor, Nyiro

AU - Ágota, Muzsnai

AU - Violetta, Csákváry

AU - Andrea, Luczay

AU - Ágnes, Sallai

AU - Éva, Hosszú

AU - Eniko, Felszeghy

AU - Attila, Tar

AU - Zsuzsanna, Szántó

AU - LászlÓ, Fekete Gy

AU - Imre, Kun

AU - Patócs, A.

AU - Rita, Bertalan

PY - 2017/8/1

Y1 - 2017/8/1

N2 - 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.

AB - 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.

KW - Idiopathic short stature

KW - Leri-weill dyschondrosteosis

KW - MLPA

KW - SHOX gene

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