TBC1D32基因中的两个新突变增加了口面指综合征的复杂性。
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.
作者信息
García-Bohórquez Belén, Marín-Reina Purificación, Aller Elena, Barberán-Martínez Pilar, Armengot Miguel, Llorens-Salvador Roberto, Almor-Palacios Inmaculada Concepción, Millán José M, García-García Gema
机构信息
Molecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain.
Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, 28029, Spain.
出版信息
Hum Genomics. 2025 May 3;19(1):49. doi: 10.1186/s40246-025-00759-0.
BACKGROUND
Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic features. Mutations in TBC1D32 were associated to retinal dystrophy and OFD, defining this form as OFD-IX.
RESULTS
A clinical exome analysis performed on a patient presenting with OFD-IX and sensorineural hearing loss (SNHL) identified two variants in TBC1D32, one of which affects splicing, with its impact validated using a minigene assay.
CONCLUSIONS
These results suggest that SNHL may represent a new clinical feature associated with this gene.
背景
纤毛病的特征是纤毛功能障碍，遗传性视网膜营养不良（IRD）属于感觉性纤毛病。此外，口面指综合征（OFD）由纤毛基因突变引起，导致畸形特征。TBC1D32基因的突变与视网膜营养不良和OFD相关，将这种形式定义为OFD-IX。
结果
对一名患有OFD-IX和感音神经性听力损失（SNHL）的患者进行的临床外显子组分析在TBC1D32基因中鉴定出两个变异体，其中一个影响剪接，通过小基因检测验证了其影响。
结论
这些结果表明，SNHL可能是与该基因相关的一种新的临床特征。
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