J Pediatr Genet 2019; 08(03): 123-132
DOI: 10.1055/s-0039-1691788
Original Article
Georg Thieme Verlag KG Stuttgart · New York

SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

1  Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina
,
Miriam Aza-Carmona
2  Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain
3  Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz, UAM, Madrid, Spain
4  CIBERER, ISCIII, Madrid, Spain
,
David Medino-Martín
2  Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain
,
Abel Gomez
5  Department of Genetics, Hospital Garrahan, Buenos Aires, Argentina
,
Karen E. Heath
2  Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain
3  Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz, UAM, Madrid, Spain
4  CIBERER, ISCIII, Madrid, Spain
,
Virginia Fano
1  Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina
,
María Gabriela Obregon
5  Department of Genetics, Hospital Garrahan, Buenos Aires, Argentina
› Author Affiliations
Funding This work was supported in part by the following grants:MINECO (SAF2015–66831-R and SAF2017–84646-R).
Further Information

Publication History

23 November 2018

16 April 2019

Publication Date:
28 May 2019 (online)

Abstract

A cohort study on the growth of 19 Argentinean children, aged 0 to 18 years, and 11 of their first-degree relatives with alterations in the SHOX gene or its regulatory regions is reported. Children are born shorter and experience a growth delay during childhood with a stunted pubertal growth spurt. Body disproportion, with a sitting height/height ratio above +2 standard deviation score (SDS), was already present as early as 2 years old. Hand length was normal. Shortening of the radius, with a length below –1.9 SDS, was the earliest and most frequent radiological sign detected as early as 45 days old. We found a previously unreported mutation in a family with a highly variable phenotype, the boy had a severe phenotype with a milder presentation in other affected members of the family. We conclude that body disproportion and a shorter radius length on X-ray are useful tools for selecting children to undergo SHOX molecular studies.