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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.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.issn 0009-9163
dc.identifier.uri http://hdl.handle.net/10230/48594
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.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.uri http://creativecommons.org/licenses/by/4.0/
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.identifier.doi http://dx.doi.org/10.1111/cge.14030
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.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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