P4HB基因变异所致成骨不全1例并文献复习  

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

作　　者：尹辉[1] 刘子勤[1] 宋福英[1] 陈晓波[1] 高亢 Yin Hui;Liu Ziqin;Song Fuying;Chen Xiaobo;Gao Kang(Department of Endocrinology,Affiliated Children′s Hospital of Capital Institute of Pediatrics,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院内分泌科,北京100020

出　　处：《中华全科医师杂志》2022年第8期751-755,共5页Chinese Journal of General Practitioners

基　　金：首都卫生发展科研专项项目(首发2018-2-2101)。

摘　　要：报道首都儿科研究所附属儿童医院诊治的1例P4HB基因变异致成骨不全患儿资料并进行文献复习。本例为女性,6个月龄,因近3个月内反复骨折入院。临床表现为反复骨折、严重骨骼畸形及额头宽大、眼球突出、鼻梁低平等特殊面容。根据临床表现诊断为成骨不全,并采用帕米膦酸二钠输注治疗。予全外显子测序,结果提示患者为P4HB基因c.1178A>G(p.Y393C)杂合错义变异所致科尔·卡彭特综合征1型。文献复习共检索到8例P4HB基因变异所致成骨不全病例,涉及5个变异位点,基因不同位点变异导致临床表现及轻重程度有所不同,提示本病基因型-表型相关性可能与影响编码蛋白不同结构域有关。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.

关 键 词：成骨不全 科尔·卡彭特综合征 P4HB基因 特殊面容 

分 类 号：R726.8[医药卫生—儿科]