Qi Xu1, Da Song1, Zhensong Wu2, Bo Fu3, Juan Zheng4, Rongrong Li4, Han Yin1, Shuangfeng Chen3, Dawei Wang1. 1. Department of Joint Surgery, Liaocheng People's Hospital, Liaocheng. 2. Department of Joint Surgery, Zaozhuang Municipal Hospital, Zaozhuang. 3. Department of Central Laboratory. 4. Department of Joint Laboratory for Translational Medicine Research, Liaocheng People's Hospital, Liaocheng, China.
Abstract
RATIONALE: Osteonecrosis 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 CONCERNS: A 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. DIAGNOSES: Whole 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. INTERVENTIONS: The patient underwent bilateral total hip arthroplast. OUTCOMES: The patient recovered well, and was discharged. LESSONS: We 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.
RATIONALE: Osteonecrosis 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 CONCERNS: A 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. DIAGNOSES: Whole 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. INTERVENTIONS: The patient underwent bilateral total hip arthroplast. OUTCOMES: The patient recovered well, and was discharged. LESSONS: We 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.
Authors: Yongmei Wang; Shigeki Nishida; Hashem Z Elalieh; Roger K Long; Bernard P Halloran; Daniel D Bikle Journal: J Bone Miner Res Date: 2006-09 Impact factor: 6.741