UAM_Biblioteca | Unified search engine | Scientific Production Portal | UAM Research Data Repository
Universidad Autónoma de Madrid
Biblos-e Archivo
We are onFacebookCanal BiblosYouTubeTwitterPinterestWhatsappInstagram
    • español
    • English
  • English 
    • español
    • English
  • Log in
JavaScript is disabled for your browser. Some features of this site may not work without it.

Search Biblos-e Archivo

Advanced Search

Browse

All of Biblos-e ArchivoCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsFacultiesThis CollectionBy Issue DateAuthorsTitlesSubjectsFaculties

My Account

Log inRegister

Statistics

View Usage Statistics

Help

Information about Biblos-e ArchivoI want to submit my workI want to submit my doctoral thesisFrequently Asked QuestionsCopyrightsFinancial Agencies and OA policy

UAM_Biblioteca

View Item 
  •   Biblos-e Archivo
  • 1 - Producción científica en acceso abierto de la UAM
  • Producción científica en acceso abierto de la UAM
  • View Item
  •   Biblos-e Archivo
  • 1 - Producción científica en acceso abierto de la UAM
  • Producción científica en acceso abierto de la UAM
  • View Item

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

Author
Babiker, Amir; Al Noaim, Khalid; Al Swaid, Abdulrahman; Alfadhel, Majid; Deeb, Asma; Martín-Rivada, Álvaro; Barrios, Vicente; Pérez-Jurado, Luis A.; Alfares, Ahmed; Al Alwan, Ibrahim; Argente Oliver, Jesúsuntranslated
Entity
UAM. Departamento de Pediatría
Publisher
Wiley
Date
2021-07-15
Citation
10.1111/cge.14030
Clinical Genetics 100.5 (2021): 601–606
 
 
 
ISSN
1399-0004
DOI
10.1111/cge.14030
Funded by
CIBER fisiopatología de obesidad y nutrición (CI, Grant/Award Number: PI19/00166)
Project
Gobierno de España. PI19/00166
Editor's Version
https://doi.org/10.1111/cge.14030
Subjects
bone mineral density; free; IGF1; IGF1; IGFALS; PAPP-A2; PAPPA2; rhIGF1; short stature; Medicina
URI
http://hdl.handle.net/10486/700653
Rights
© 2021 by the authors

Licencia Creative Commons
Esta obra está bajo una Licencia Creative Commons Atribución 4.0 Internacional.

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
Show full item record

Files in this item

Thumbnail
Name
short_babiker_clinical.genetics _ 2021 .pdf
Size
2.272Mb
Format
PDF

Refworks Export

Delicious Save this on Delicious

Google™ Scholar:Babiker, Amir - Al Noaim, Khalid - Al Swaid, Abdulrahman - Alfadhel, Majid - Deeb, Asma - Martín-Rivada, Álvaro - Barrios, Vicente - Pérez-Jurado, Luis A. - Alfares, Ahmed - Al Alwan, Ibrahim - Argente Oliver, Jesús

This item appears in the following Collection(s)

  • Producción científica en acceso abierto de la UAM [15090]

Related items

Showing items related by title, author, creator and subject.

  • Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability 

    Dauber, Andrew; Muñoz-Calvo, María T.; Barrios, Vicente; Domené, Horacio M.; Kloverpris, Soren; Serra-Juhé, Clara; Desikan, Vardhini; Pozo, Jesús; Muzumdar, Radhika; Martos Moreno, Gabriel ÁngelAutoridad UAM; Hawkins, Federico G.; Jasper, Héctor G.; Conover, Cheryl A.; Frystyk, Jan; Yakar, Shoshana; Hwa, Vivian; Chowen, Julie Ann; Oxvig, Claus; Rosenfeld, Ron G.; Pérez-Jurado, Luis A.; Argente Oliver, JesúsAutoridad UAM
    2016-04-01
  • Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency 

    Argente Oliver, JesúsAutoridad UAM; Flores, Raquel Z.; Gutiérrez-Arumí, Armand; Verma, Bhupendra; Martos Moreno, Gabriel ÁngelAutoridad UAM; Cuscó, I.; Oghabian, Ali; Chowen, Julie Ann; Frilander, Mikko J.; Pérez-Jurado, Luis A.
    2014-03-01
  • Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency 

    Martín-Rivada, Álvaro; Barrios, Vicente; Martínez Díaz-Guerra, Guillermo; Pozo, Jesús; Martos-Moreno, Gabriel Ángel; Argente Oliver, JesúsAutoridad UAM
    2021-08-03
All the documents from Biblos-e Archivo are protected by copyrights. Some rights reserved.
Universidad Autónoma de Madrid. Biblioteca
Contact Us | Send Feedback
We are onFacebookCanal BiblosYouTubeTwitterPinterestWhatsappInstagram
 

 

All the documents from Biblos-e Archivo are protected by copyrights. Some rights reserved.
Universidad Autónoma de Madrid. Biblioteca
Contact Us | Send Feedback
We are onFacebookCanal BiblosYouTubeTwitterPinterestWhatsappInstagram