TBC1D32基因的两个新突变增加了颅面指综合征的复杂性。

IF 3.8 3区医学 Q2 GENETICS & HEREDITY

Human Genomics Pub Date : 2025-05-03 DOI:10.1186/s40246-025-00759-0

Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M Millán, Gema García-García

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引用次数: 0

摘要

背景：纤毛病以纤毛功能障碍为特征，包括遗传性视网膜营养不良（IRDs）在内的感觉纤毛病。此外，oro- face -digital syndrome （OFD）是由纤毛基因突变引起的畸形特征。TBC1D32突变与视网膜营养不良和OFD有关，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发现了TBC1D32的两种变体，其中一种影响剪接，其影响使用minigene assay验证。结论：这些结果提示SNHL可能代表了与该基因相关的一种新的临床特征。

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Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

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.

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.