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少牙症是由LTBP3（编码潜伏转化生长因子β结合蛋白3的基因）突变引起的。

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

作者信息

Noor Abdul, Windpassinger Christian, Vitcu Irina, Orlic Marija, Rafiq Muhammad Arshad, Khalid Mahwish, Malik Mahmood Nasir, Ayub Muhammad, Alman Benjamin, Vincent John B

机构信息

Neuropsychiatry and Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON M5T 1R8, Canada.

出版信息

Am J Hum Genet. 2009 Apr;84(4):519-23. doi: 10.1016/j.ajhg.2009.03.007. Epub 2009 Apr 2.

DOI:10.1016/j.ajhg.2009.03.007
PMID:19344874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2667979/
Abstract

We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. Using high-density single-nucleotide polymorphism microarrays for homozygosity mapping, we identified a 28 Mb homozygous stretch shared between affected individuals on chromosome 11q13. Screening selected candidate genes within this region, we identified a homozygous nonsense mutation, Y774X, within LTBP3, the gene for the latent TGF-beta binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.

摘要

我们确定了一个近亲结婚的巴基斯坦家庭，其中少牙畸形与身材矮小以常染色体隐性方式遗传。脊柱和颅底存在骨密度增加的情况。我们使用高密度单核苷酸多态性微阵列进行纯合性定位，在11号染色体q13区域的受影响个体之间确定了一个28兆碱基的纯合片段。通过筛选该区域内选定的候选基因，我们在LTBP3（潜在转化生长因子β结合蛋白3的基因，一种被认为是破骨细胞功能所必需的细胞外基质蛋白）中确定了一个纯合无义突变Y774X。

相似文献

[1]
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

Am J Hum Genet. 2009-4

[2]
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.

Am J Med Genet A. 2015-6

[3]
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Arch Oral Biol. 2013-1-11

[4]
[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].

Harefuah. 2023-6

[5]
Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders.

Mol Genet Genomics. 2019-3-18

[6]
A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakistani families.

J Hum Genet. 2006

[7]
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Hum Mol Genet. 2015-6-1

[8]
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[9]
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Invest Ophthalmol Vis Sci. 2009-5

[10]
Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene.

J Pak Med Assoc. 2020-3

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[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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Orphanet J Rare Dis. 2021-12-14

[9]
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in .

Genes (Basel). 2021-9-12

[10]
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Int Dent J. 2022-2

本文引用的文献

[1]
Genome-wide linkage screen for stature and body mass index in 3.032 families: evidence for sex- and population-specific genetic effects.

Eur J Hum Genet. 2009-2

[2]
Genome-wide association analysis identifies 20 loci that influence adult height.

Nat Genet. 2008-5

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Many sequence variants affecting diversity of adult human height.

Nat Genet. 2008-5

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Identification of ten loci associated with height highlights new biological pathways in human growth.

Nat Genet. 2008-5

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Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci.

PLoS Genet. 2007-6

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Anthropometric correlates of blood pressure in normotensive Pakistani subjects.

Int J Cardiol. 2008-2-29

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Osteopetrosis-like phenotype in latent TGF-beta binding protein 3 deficient mice.

Bone. 2005-7

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Nat Genet. 2005-3

[9]
easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses.

Bioinformatics. 2005-2-1

[10]
Genetic approaches to stature, pubertal timing, and other complex traits.

Mol Genet Metab. 2003

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