Biha Noura, Ghaber S M, Hacen M M, Collet Corinne
Rheumatology Department, Nouakchott Military Hospital, Mauritania; Faculté de Médecine de Nouakchott, Mauritania.
Faculté de Médecine de Nouakchott, Mauritania; Service des Laboratoires, Centre Hospitalier National de Nouakchott, Mauritania.
Case Rep Genet. 2016;2016:9814928. doi: 10.1155/2016/9814928. Epub 2016 Jan 19.
Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; pTrP757(⁎)); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third β-propeller domain of the LRP5 protein. Both parents were heterozygous for the mutation. This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG.
骨质疏松-假性胶质瘤（OPPG）综合征是一种非常罕见的常染色体隐性疾病，由低密度脂蛋白受体相关蛋白5（LRP5）基因突变引起。其表现为严重的青少年骨质疏松症，并伴有先天性或婴儿期开始的视力丧失。我们描述了一例因LRP5基因新突变导致的OPPG病例，该病例发生在一名毛里塔尼亚女童身上。这名10岁女童出生时失明，之后出现了多处脆性骨折。聚合酶链反应（PCR）扩增和测序显示，LRP5基因第10外显子存在一种新的纯合无义突变（c.2270G>A；pTrP757(⁎)）；该突变导致产生一种截短的蛋白质，包含757个氨基酸而非1615个氨基酸，位于LRP5蛋白的第三个β-螺旋桨结构域。父母双方均为该突变的杂合子。这是在非洲黑人中描述的首例OPPG病例，拓宽了OPPG中LRP5基因突变的范围。
