Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family

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  • dc.contributor.author Babiker, Amir
  • dc.contributor.author Al Noaim, Khalid
  • dc.contributor.author Al Swaid, Abdulrahman
  • dc.contributor.author Alfadhel, Majid
  • dc.contributor.author Deeb, Asma
  • dc.contributor.author Martín Rivada, Álvaro
  • dc.contributor.author Barrios, Vicente
  • dc.contributor.author Pérez Jurado, Luis Alberto
  • dc.contributor.author Alfares, Ahmed
  • dc.contributor.author Al Alwan, Ibrahim
  • dc.contributor.author Argente, Jesús
  • dc.date.accessioned 2021-10-08T06:03:57Z
  • dc.date.available 2021-10-08T06:03:57Z
  • dc.date.issued 2021
  • dc.description.abstract In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss-of-function mutations in the gene encoding the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) was described in two families. Here we report two siblings of a third family from Saudi Arabia with postnatal growth retardation and decreased IGF1 availability due to a new homozygous nonsense mutation (p.Glu886* in exon 7) in PAPPA2. The two affected males showed progressively severe short stature starting around 8 years of age, moderate microcephaly, decreased bone mineral density, and high circulating levels of total IGF1, IGFBP3, and the IGF acid-labile subunit (IGFALS), with decreased free IGF1 concentrations. Interestingly, circulating IGF2 and IGFBP5 were not increased. An increase in growth velocity and height was seen in the prepuberal patient in response to rhIGF1. These patients contribute to the confirmation of the clinical picture associated with PAPP-A2 deficiency and that the PAPPA2 gene should be studied in all patients with short stature with this characteristic phenotype. Hence, pediatric endocrinologists should measure circulating PAPP-A2 levels in the study of short stature as very low or undetectable levels of this protein can help to focus the diagnosis and treatment.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Babiker A, Al Noaim K, Al Swaid A, Alfadhel M, Deeb A, Martín-Rivada Á, Barrios V, Pérez-Jurado LA, Alfares A, Al Alwan I, Argente J. Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family. Clin Genet. 2021;100(5):601-6. DOI: 10.1111/cge.14030
  • dc.identifier.doi http://dx.doi.org/10.1111/cge.14030
  • dc.identifier.issn 0009-9163
  • dc.identifier.uri http://hdl.handle.net/10230/48594
  • dc.language.iso eng
  • dc.publisher Wiley
  • dc.relation.ispartof Clin Genet. 2021;100(5):601-6
  • dc.rights © 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword IGF1
  • dc.subject.keyword IGFALS
  • dc.subject.keyword PAPP-A2
  • dc.subject.keyword PAPPA2
  • dc.subject.keyword Bone mineral density
  • dc.subject.keyword Free
  • dc.subject.keyword rhIGF1
  • dc.subject.keyword Short stature
  • dc.title Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion