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Article

Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2020

Skarp Sini, Xia Ji-Han, Zhang Qin, Löija Marika, Costantini Alice, Ruddock Lloyd W, Mäkitie Outi, Wei Gong-Hong, Männikkö Minna

Abstract excerpt

We studied a family with severe primary osteoporosis carrying a heterozygous p.Arg8Phefs*14 deletion in COL1A2, leading to haploinsufficiency. Three affected individuals carried the mutation and presented nearly identical spinal fractures but lacked other typical features of either osteogenesis imperfecta or Ehlers-Danlos syndrome. Although mutations leading to haploinsufficiency in COL1A2 are rare, mutations in...

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Identifiers

PMID: 32722848
DOI: 10.1002/jbmr.4145
PMCID: PMC7757391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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