• Medicine · Jan 2021

    Case Reports

    Identification of an IGF1 mutation (c.15+3G>A) in familial osteonecrosis of the femoral head: A case report.

    • Qi Xu, Da Song, Zhensong Wu, Bo Fu, Juan Zheng, Rongrong Li, Han Yin, Shuangfeng Chen, and Dawei Wang.
    • Department of Joint Surgery, Liaocheng People's Hospital, Liaocheng.
    • Medicine (Baltimore). 2021 Jan 8; 100 (1): e23705e23705.

    RationaleOsteonecrosis of the femoral head is a common orthopedic disease. Some studies have shown that osteonecrosis of the femoral head is related to susceptibility genes, but there are few reports of familial osteonecrosis of the femoral head. Here, we reported two first-degree relatives with osteonecrosis of the femoral head.Patient ConcernsA 27-year-old man with bilateral hip pain was diagnosed with osteonecrosis of the femoral head. The patient's mother also had a history of this disease.DiagnosesWhole exome sequencing revealed the same mutation (c.15+3G>A) in the insulin-like growth factor 1 (IGF1) gene of the proband and his mother but not in his elder sister.InterventionsThe patient underwent bilateral total hip arthroplast.OutcomesThe patient recovered well, and was discharged.LessonsWe found a heterozygous mutation (c.15+3G>A) in IGF1 in this family, which could be related to osteonecrosis of the femoral head. Early genetic counseling and gene locus detection could, thus, prove helpful for early diagnosis of osteonecrosis of the femoral head.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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