Pedigree analysis of a osteogenesis imperfect and prolactinoma family caused by a newly found gene mutation in COL1A1

VernacularTitle:新发现COL1A1基因突变致成骨不全合并催乳素瘤一例及其家系分析
Author: Songmei HAN ¹ ; Qiong LIU ; Xinye JIN ; Haiying XIAO ; Kang CHEN ; Xianling WANG ; Yonghong LEI ; Qinghua GUO
Author Information

1. 解放军总医院海南分院内分泌科
Keywords: Osteogenesis imperfect; Prolactinoma; Gene mutation; COL1A1
From: Chinese Journal of Endocrinology and Metabolism 2018;34(9):778-783
CountryChina
Language:Chinese
Abstract: Objective To explore the collagen, typeⅠ, α 1 chain ( COL1A1) gene mutation in a family with type 1 osteogenesis imperfect. Methods The medical records and DNA samples of an osteogenesis imperfect patient and her family members were collected, and their DNA sequencing were performed and compared with 50 non-relative healthy control from the same area. Results The proband and her three family members ( father, younger brother, and younger nephew) with clinical features of osteogenesis imperfect as well as prolactinoma were confirmed of COL1A1 gene mutation at the 24th intron with a shear mutation of c. 1669-1 G＞A which was not reported previously. Other family members were genetically normal compared with the normal. Conclusions We found a new COL1A1 gene mutation family and mutation site, but the relationship between osteogenesis imperfect and prolactinoma was unknown.