Osteoporosis imperfect caused by P4HB gene variation:report of one case and literature review

VernacularTitle:P4HB基因变异所致成骨不全1例并文献复习
Author: Hui YIN ¹ ; Ziqin LIU ; Fuying SONG ; Xiaobo CHEN ; Kang GAO
Author Information

1. 首都儿科研究所附属儿童医院内分泌科，北京　100020
Keywords: Osteoporosis imperfecta; Cole-Carpenter syndrome; P4HB gene; Distinctive facial features
From: Chinese Journal of General Practitioners 2022;21(8):751-755
CountryChina
Language:Chinese
Abstract: A 6-month-oldgirl was admitted in Affiliated Children′s Hospital of Capital Institute of Pediatrics with the complaint of “Recurrent fractures within 3 months”. She presented with frequent fractures, skeletal deformities,and distinctive facial features, including wide forehead, ocular proptosis and a flat nose bridge. She was diagnosed as osteoporosis imperfecta based on the clinical characteristics and given pamidronate disodium treatment. The whole exon sequencing showed heterozygous mutation of P4HB gene c.1178A>G (p.Y393C), which leads to a rare type of osteoporosis imperfect a Cole-Carpenter syndrome-1. Eight cases of osteoporosis imperfecta affected by P4HB mutation involving 5 mutationsites were retrieved from literature review. Different mutation sites lead to different clinical manifestations and severity of disease. The genotype-phenotype correlation of osteoporosis imperfect may be associated with the domains of coding proteins.