1例颅骨锁骨发育不全家系临床表型及基因突变分析

doi:10.13591/j.cnki.kqyx.2026.01.009

Abstract

Abstract:

Objective To confirm the mutation in a family with cleidocranial dysplasia (CCD) and explore its possible effects on protein structure and function. Methods A proband with CCD was diagnosed through clinical symptoms and radiography examinations. Peripheral blood samples were collected from the proband and his family members for whole-exome sequencing. The pathogenic mutation was validated by Sanger sequencing. Further investigations were conducted to analyze the protein structural and functional changes induced by this mutation and explore the potential mechanisms by which this gene contributed to the pathogenesis of CCD. Results In this family, both the proband and his father exhibited typical clinical manifestations of cleidocranial dysplasia (CCD), including clavicular hypoplasia, delayed closure of fontanelles, craniofacial and dental abnormalities. A previously reported RUNX2 missense mutation (c. 569G>A, p. Arg190Gln) was identified in this family. This mutation occurred within the highly conserved runt domain, disrupting RUNX2 protein function. Bioinformatics analysis further confirmed the critical role of RUNX2 in craniofacial skeleton and tooth development. Conclusion A missense mutation in exon 4 of the RUNX2 gene is identified in a Chinese CCD family, providing novel therapeutic insights for CCD patients from molecular biological perspective.

Key words: cleidocranial dysplasia, RUNX2, missense mutation

CLC Number:

R782

ZHANG Xinyu, MAO Ji, CHENG Tingting, MA Lan, CHENG Liming, PAN Yongchu. Clinical and genetic study on a cleidocranial dysplasia family[J]. Stomatology, 2026, 46(1): 54-60.

Figures/Tables 5

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References 29

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测量项目	正常人群^[8]	Ⅰ:1	Ⅱ:1
SNA/(°)	82.8±4.0	90.5	100.2
SNB/(°)	80.1±3.9	90.9	94.2
ANB/(°)	2.7±2.0	-0.4	6.0
NP-FH/(°)	85.4±3.7	101.2	96.3
NA-PA/(°)	6.0±4.4	-3.8	9.3
U1-NA/mm	5.1±2.4	0.5	-4.5
U1-NA/(°)	22.8±5.7	24.3	4.3
L1-NB/mm	6.7±2.1	4.3	0.4
L1-NB/(°)	30.3±5.8	28.6	11.7
U1-L1(°)	124.2±8.2	127.5	158.0
FMA(FH-MP)/(°)	31.1±5.6	13.0	22.6
FMIA(L1-FH)/(°)	54.9±6.1	71.0	83.7
IMPA(L1-MP)/(°)	93.9±6.2	96.0	73.7

Clinical and genetic study on a cleidocranial dysplasia family

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