Expansion of polyalanine tracts in the QA domain may play a critical role in the clavicular development of cleidocranial dysplasia

Wu, Li-An; Xu, Xinyue; Lei, Yingfeng; Wang, Xiaojing

doi:10.1007/s12041-015-0551-8

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Mutations In Human Runx21

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2016

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“…Recently, the plausible connection between the number of alanine repeats within QA domain and the absence of clavicles in patients with CCD has been revealed. The analysis of polyalaninie tracts in warm blooded mammals (including human) revealed that species having 17 or 18 alanine tracts have clavicles, while the absence of repeats or its increased number is associated with the reduction or lack of clavicles . Polyalanine repeats however are not the only ones linked with CCD phenotype since a case of polyglutamine tract insertion was reported (213_214insCAGCAGCAGCAG), also in Q/A domain, resulting in reduced transactivation of RUNX2 .…”

Section: Mutations In Human Runx2mentioning

confidence: 99%

Cleidocranial dysplasia and RUNX2‐clinical phenotype–genotype correlation

et al. 2016

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Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles. Here, we summarize recent knowledge about RUNX2 function, mutations and their phenotypic consequences in patients.

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Section: Mutations In Human Runx2mentioning

confidence: 99%