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Identification of a Novel Mutation in the Runt-Related Transcription Factor 2 Gene in a Chinese Family With Cleidocranial Dysplasia.

The Journal of craniofacial surgery - 1 Sept 2021

Zhao Wenquan, Ye Guanchen, Yu Xiaowen, Xu Ji, Li Zhiyong

Abstract excerpt

ABSTRACT: Cleidocranial dysplasia (CCD) is an uncommon autosomal dominant disease, characterized by hypoplasia of clavicles, delayed fontanelle closure, dental anomalies, and short stature. It has been reported in the literature that the pathogenic variants of Runt-related transcription factor 2 (RUNX2) gene are correlated with CCD patients.Here, we report a consanguineous Chinese family with 2 patients suffering...

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China
Cleidocranial Dysplasia
Consanguinity
Core Binding Factor Alpha 1 Subunit
Dwarfism

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PMID: 33538445
DOI: 10.1097/SCS.0000000000007510

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