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Article

Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Jun 2018

Song Y, Zhao D, Xu X, Lv F, Li L, Jiang Y, Wang O, Xia W, Xing X, Li M

Abstract excerpt

We identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs was effective in increasing BMD Z-score, reducing fracture incidence and reshaping vertebrae compression. INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable...

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Identifiers

PMID: 29520608
DOI: 10.1007/s00198-018-4448-2

Genes

SERPINH1

Variants

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