PDF(Pubmed)
Abstract：
Spondylometaphyseal dysplasia Algerian type (MIM no.: 184253) is an uncommon autosomal dominant skeletal dysplasia caused by heterozygous mutations in the COL2A1 gene (MIM no.: 120140). In this case based review, we reported a 5-year-old boy with short stature, severe dorsolumbar scoliosis, lumbar hyperlordosis, short trunk, and severe genu valgum . Radiological examination showed platyspondyly, irregular metaphyseal radiolucencies intermingled with radiodensities, and corner fractures. The patient has a c.3275G > A; p.Gly1092Asp mutation in exon 47 of the COL2A1 gene and a variant of unknown significance in c.1366-13C > A in intron 21. This latter sequence variant could partially or completely disrupt the natural splice acceptor site of intron 21/exon 22 in the COL2A1 gene leading to a potential modification of the phenotypic severity.
摘要：
阿尔及利亚型脊椎干骨干发育不良（MIM编号。：184253）是由COL2A1基因杂合突变引起的一种罕见的常染色体显性骨骼发育不良（MIM编号。：120140）。在这种情况下，基于审查，我们报道了一个身高矮小的5岁男孩,严重的腰背脊柱侧凸，腰椎过度前凸,短树干,和严重的genuvalgum。放射学检查显示为桔梗，不规则的干phy端放射性不透性与放射性密度混合，和角骨折。该患者在COL2A1基因的外显子47中有c.327G>A;p.Gly1092Asp突变，在内含子21中c.1366-13C>A中有一个未知意义的变异。后一种序列变体可以部分或完全破坏COL2A1基因中内含子21/外显子22的天然剪接受体位点,导致表型严重性的潜在修饰。
