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hrp0084ha2 | A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) | ESPE2015

A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families

Dauber Andrew , Munoz-Calvo Maria T , Barrios Vicente , Desikan Vardhini , Pozo Jesus , Muzumdar Radhika , Martos-Moreno Gabriel A , Hawkins Federico , Domene Horacio , Jasper Hector G , Kloverpris Soren , Yakar Shoshana , Conover Cheryl A , Kopchick John J , Hwa Vivian , Chowen Julie A , Oxvig Claus , Rosenfeld Ron G , Perez-Jurado Luis A , Argente Jesus

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

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ESPE Abstracts

A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families

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