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单体型分析和候选基因优先级分析发现了 SMOC2 中的突变，这些突变通过全外显子测序被遗漏，导致主要的牙齿发育缺陷。

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

机构信息

Faculty of Dentistry, University of Strasbourg, 1 place de l'Hôpital, Strasbourg, France.

出版信息

Am J Hum Genet. 2011 Dec 9;89(6):773-81. doi: 10.1016/j.ajhg.2011.11.002.

DOI:10.1016/j.ajhg.2011.11.002
PMID:22152679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3234372/
Abstract

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. The two affected children were found to carry a homozygous mutation in SMOC2. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that had abnormalities reminiscent of the human phenotype. Moreover, smoc2 depletion in zebrafish affected the expression of three major odontogenesis genes: dlx2, bmp2, and pitx2.

摘要

遗传性牙齿畸形是一组临床和遗传异质性疾病。在这里，我们报告了一个严重的发育性牙齿缺陷，该缺陷导致具有主要小牙、少牙和形状异常的牙本质发育不良表型，发生在一个高度近亲结婚的家庭中。纯合子作图显示 6q27 末端有一个独特的区域。发现这两个受影响的孩子携带 SMOC2 的纯合突变。斑马鱼中的 smoc2 敲低显示咽齿具有类似于人类表型的异常。此外，斑马鱼中 smoc2 的缺失影响了三个主要牙发生基因：dlx2、bmp2 和 pitx2 的表达。

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[1]
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[6]
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[7]
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[8]
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[10]
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本文引用的文献

[1]
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Am J Hum Genet. 2010-12-30

[2]
SMOC1 is essential for ocular and limb development in humans and mice.

Am J Hum Genet. 2010-12-30

[3]
bmp2b and bmp4 are dispensable for zebrafish tooth development.

Dev Dyn. 2010-10

[4]
SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs.

Eur J Dermatol. 2010-10-22

[5]
Dact1-3 mRNAs exhibit distinct expression domains during tooth development.

Gene Expr Patterns. 2010

[6]
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.

J Invest Dermatol. 2009-11-5

[7]
Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiation.

Dev Dyn. 2009-11

[8]
Prdm1a is necessary for posterior pharyngeal arch development in zebrafish.

Dev Dyn. 2009-10

[9]
The importance of signal pathway modulation in all aspects of tooth development.

J Exp Zool B Mol Dev Evol. 2009-6-15

[10]
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.

Orphanet J Rare Dis. 2008-11-20

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