Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.,Molecular Genetics & Genomic Medicine

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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-06-24 , DOI: 10.1002/mgg3.1354
Thomas Nixon _{1,

2} , Allan J Richards _{3,

4} , Adrian Lomas ₄ , Stephen Abbs ₄ , Pradeep Vasudevan ₅ , Annie McNinch _{2,

3} , Philip Alexander _{1,

2} , Martin P Snead _{1,

2}

Affiliation

Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly‐Xaa‐Yaa amino acid sequence repeat region of the molecule, mRNA missplicing or deletions/duplications that typically leaves the message in‐frame. Clinical features include myopia, retinal detachment, craniofacial, joint, and hearing problems. Fibrochondrogenesis is also a COL11A1 related disorder, but here disease‐associated variants are recessive and may be either null alleles or substitutions of glycine, and the condition is usually lethal in infancy.

中文翻译：

COL11A1中遗传和从头产生的双等位基因致病变异导致2型Stickler综合征，伴有严重的听力损失。

2型Stickler综合征通常是由编码XI型胶原的alpha 1链的COL11A1中的致病变异引起的显性疾病。典型的分子变化会导致分子的Gly-Xaa-Yaa氨基酸序列重复区域内的专性甘氨酸取代，mRNA重复缺失或缺失/重复，这些通常会在框内显示信息。临床特征包括近视，视网膜脱离，颅面，关节和听力问题。纤维软骨生成也是一种与COL11A1相关的疾病，但此处与疾病相关的变异是隐性的，可能是无效的等位基因或甘氨酸的替代，这种病在婴儿期通常是致命的。

更新日期：2020-06-24

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