A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.

IF 2 4区生物学 Q2 PLANT SCIENCES Journal of Plant Biology Pub Date : 2021-07-26 eCollection Date: 2023-12-01 DOI:10.1055/s-0041-1732474

Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea

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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.

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一例患有两种 COL2A1 基因突变的阿尔及利亚型脊柱软骨发育不良症重症病例

脊柱骨骺发育不良阿尔及利亚型（MIM 编号：184253）是一种不常见的常染色体显性骨骼发育不良，由 COL2A1 基因（MIM 编号：120140）的杂合子突变引起。在本病例回顾中，我们报告了一名患有身材矮小、严重背腰椎侧弯、腰椎过度伸展、躯干短小和严重膝下畸形的 5 岁男孩。放射学检查显示，他患有板状软骨发育不良、不规则的骨骺放射状突起与放射状骨密度混杂在一起以及拐角骨折。患者的 COL2A1 基因第 47 号外显子中存在 c.3275G > A; p.Gly1092Asp 突变，内含子 21 中的 c.1366-13C > A 变异意义不明。后一种序列变异可能会部分或完全破坏 COL2A1 基因内含子 21/ 外显子 22 的天然剪接受体位点，从而导致表型严重程度的潜在改变。

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来源期刊

Journal of Plant Biology 生物-植物科学

CiteScore

5.40

自引率

3.40%

发文量

审稿时长

1 months

期刊介绍： Journal of Plant Biology, an official publication of the Botanical Society of Korea, is an international journal devoted to basic researches in biochemistry, cellular biology, development, ecology, genetics, molecular biology, physiology, and systematics of plants. The Journal publishes the following categories of paper: Original articles -- For publication in Journal of Plant Biology the manuscript must provide a significant new contribution to our understanding of plants. All areas of plant biology are welcome. No limit on the length, but a concise presentation is encouraged. Reviews -- Invited by the EiC. Brief Communications -- Concise but independent report representing significant contribution to plant science. The Botanical Society of Korea was founded on November 30, 1957 to promote studies, disseminate and exchange information on the field of plant biology. The first issue of The Korean Journal of Botany, the official publication of the society, was published on April 1, 1958. It was published twice a year, but quarterly from 5th volume in 1962. In 1994, it was renamed to Journal of Plant Biology and published in English since 1996. The journal entered its 50th year of publication in 2007.