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Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

dr.qinan 添加于 2012-12-10 08:18 | 3280 次阅读 | 0 个评论

作者
Megarbane A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C
摘要
Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile osteopetrosis. The proband exhibited macrocephaly, prominent forehead, proptosis of the eyes, strabismus, splenomegaly and joint hyperlaxity. Bone X-rays showed increased bone density, metaphyseal under-modelling, transverse alternating bands of greater and lesser density in tubular bones, anteriorly notched vertebral bodies and bone-in-bone appearance. Brain atrophy, external hydrocephalus and thin corpus callosum were noted at the brain MRI and CT scan. Blood test results revealed the presence of anaemia and leukopenia. Our findings confirm the role of SNX10 in autosomal recessive osteopetrosis and help to better define the core set of manifestations associated with this new pathological entity.
详细资料
- 文献种类:期刊
- 期刊名称: European Journal of Medical Genetics
- 期刊缩写: Eur J Med Genet
- 期卷页: 2012年
- 地址: Unite de Genetique Medicale et laboratoire associe INSERM a l\'Unite UMR_S 910, Pole Technologie Sante, Universite Saint-Joseph, Beirut, Lebanon. Electronic address: megarbane@usj.edu.lb
- ISBN: 1769-7212
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骨质硬化症
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SNX10导致骨硬化

在这篇文章中，作者报道了一个位于SNX10基因的终止突变，从而导致患者骨硬化。SNX10是分类Nexin家族的一员，仅含有PX功能域。在细胞内，过表达SNX10可导致细胞内大量空泡形成，在斑马鱼中，SNX10可与空泡ATP酶相互作用，在小鼠中，SNX10在破骨细胞形成过程中表达升高。而在人中，SNX10的一个错义点突变或者终止突变，均可导致患者骨硬化。因此，SNX10是新发现的导致骨硬化的基因。但其分子机制仍有待进一步研究。

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