What question did this study set out to answer?

The research aims to investigate a novel mutation in the FN1 gene associated with spondylometaphyseal dysplasia.

April 24, 2026JCEM Case Reports0 citationsOpen Access

A novel mutation in FN1 causing spondylometaphyseal dysplasia corner fracture type in a multigenerational family

CWChristopher WoodyUniversity of North Carolina at Chapel Hill RGRonald GwinnUniversity of North Carolina at Chapel Hill RGRose GuoCone Health

Key Points

The research aims to investigate a novel mutation in the FN1 gene associated with spondylometaphyseal dysplasia.
Conducted genetic analysis on a multigenerational family with a history of spondylometaphyseal dysplasia.
Identified a novel heterozygous variant in the FN1 gene among affected family members.
Reviewed clinical history related to skeletal dysplasia and its associated symptoms.
A novel pathogenic variant (c.643T>C, p.Cys215Arg) in FN1 was identified in four family members.
The patient exhibited severe spine osteoporosis and mild scoliosis.
Chronic limb pain since childhood was noted, impacting quality of life.

Abstract

Abstract We report a case of a female individual with severe spine osteoporosis diagnosed at age 52. History revealed a childhood diagnosis of spondylometaphyseal dysplasia corner fracture type (SMDCF), a rare skeletal dysplasia associated with short stature and scoliosis. Genetic analysis showed a novel heterozygous variant in the fibronectin 1 gene (FN1) which mapped to 4 affected family members. The site of the familial pathogenic variant (c.643TC, p.Cys215Arg) was located in the part of the fibronectin protein associated with established pathogenic variants, which interfere with secretion of the protein from mesenchymal stem cells. Little has been reported regarding the natural history of SMDCF: our patient presented to the adult endocrine clinic with early postmenopausal osteoporosis. Her scoliosis was mild, and she admitted to continued limb pain that had been present since childhood.

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