SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

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Abstract

Background

The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children.

Methods

Molecular analysis of the SHOX gene was performed in 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables and radiographs of the hand, wrist and forearm were evaluated.

Results

SHOX mutations (88% inherited, 12% de novo) were identified in 52 subjects. The most predictive auxological indicators of SHOX-D were an increased sitting height/height ratio and a decreased arm span/height ratio. The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D .

Conclusions

In this study, the analysis of auxological and radiological indicators in SHOX-D children allowed to identify an additional early radiological sign and underlines the importance of family auxological evaluation.

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Most cited references 26

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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale … (2015)

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.

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Standards for children's height at ages 2-9 years allowing for heights of parents.

Jared Tanner, Laura Goldstein, Michael Whitehouse (1970)

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Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

E Cacciari, S. Milani, A. Balsamo … (2006)

The aim of this study is to extend to pre-school ages the Italian Society for Pediatric Endocrinology and Diabetes (SIEDP)-2002 growth charts for height, weight and body mass index (BMI), to obtain charts (SIEDP-2006) that apply to the Italian population from 2 to 20 yr of age, taken as a whole, or separately in two geographical areas (Central-North Italy and South Italy). The charts are based on a sample of about 70,000 subjects attending infant, primary and secondary schools, between 1994 and 2004. The distribution of the sample by gender, age and geographic area was roughly similar to that of Italian school population in the last decade of the 20th century. Height and weight were measured using portable Harpenden stadiometers and properly calibrated scales, respectively. SIEDP-2006 references are presented both as centiles and as LMS curves for the calculation of SD scores, and include the extra-centiles for overweight and obesity. Large differences in BMI growth pattern emerged between the SIEDP-2006, 2000 CDC and UK90 references: in Italy, BMI is higher and its distribution is more skewed during childhood and adolescence. At the end of growth, median values of the three references are similar, but the 97th centile of 2000 CDC charts is much higher and increases more steeply than that of SIEDP-2006 charts, which on the contrary reach a plateau. SIEDP-2006 references intend to supply pediatricians with a tool that avoids the use of charts that are outdated or that refer to other populations, and thus should be suitable for adequately monitoring the growth of their patients.

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Author and article information

Contributors

Silvia Vannelli:

ORCID: http://orcid.org/0000-0001-7944-4189

silvia.vannelli@unito.it

Journal

Journal ID (nlm-ta): Ital J Pediatr

Journal ID (iso-abbrev): Ital J Pediatr

Title: Italian Journal of Pediatrics

Publisher: BioMed Central (London )

ISSN (Electronic): 1824-7288

Publication date (Electronic): 3 November 2020

Publication date PMC-release: 3 November 2020

Publication date Collection: 2020

Volume: 46

Electronic Location Identifier: 163

Affiliations

[1 ]GRID grid.415778.8, Pediatric Endocrinology, , Regina Margherita Children’s Hospital, ; Turin, Italy

[2 ]GRID grid.7605.4, ISNI 0000 0001 2336 6580, Department of Public Health and Pediatric Sciences, , University of Turin, ; Turin, Italy

[3 ]Laboratory of Human Genetics, Galliera Hospitals, Genoa, Italy

[4 ]GRID grid.7605.4, ISNI 0000 0001 2336 6580, Postgraduate School of Pediatrics, , University of Turin, ; Turin, Italy

[5 ]GRID grid.415778.8, Pediatric Radiology, , Regina Margherita Children’s Hospital, ; Turin, Italy

Author information

Silvia Vannelli http://orcid.org/0000-0001-7944-4189

Article

Publisher ID: 927

DOI: 10.1186/s13052-020-00927-z

PMC ID: 7640664

PubMed ID: 33143726

SO-VID: 74bc8684-9e2b-49e3-acba-fb3ac9077308

License:

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 10 July 2020

Date accepted : 26 October 2020

Custom metadata

ScienceOpen disciplines: Pediatrics

Keywords: shox,growth impairment,convexity of distal radial metaphysis

Data availability:

ScienceOpen disciplines: Pediatrics

Keywords: shox, growth impairment, convexity of distal radial metaphysis

SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

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Abstract

Background

Methods

Results

Conclusions

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Chinese Journal of School Health

Most cited references 26

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Standards for children's height at ages 2-9 years allowing for heights of parents.

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

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