Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies

IF 1.7 4区医学 Q3 DEVELOPMENTAL BIOLOGY

International Journal of Developmental Neuroscience Pub Date : 2024-07-14 DOI:10.1002/jdn.10365

Hongwei Yin, Yonglin Yu, Yingying Shen

引用次数: 0

Abstract

Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14-month-old boy with global developmental delay and hearing disorder. Whole exome sequencing (WES) revealed the compound heterozygous variants [NM_001519.4: c.652 T > G (p.W218G); c.915 + 1G > T] in the BRF1 gene which inherited from his parents, respectively. The MRI results showed hypoplastic cerebellar vermis, enlarged cisterna magna, and prominent fourth ventricle, the rehabilitation therapy failed to improve the symptoms for our patient. Our finding expands the genetic spectrum of BRF1 variants, which indicates patients with the developmental delay caused by BRF1 variants require other treatments instead of rehabilitation.

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从发育迟缓、听力异常和神经系统异常的患者中鉴定出 BRF1 基因的新型变异体。

脑发育异常综合征（Cerebellofaciodental Syndrome）以畸形、智力障碍和脑部异常为特征。现在，该病的临床表现范围扩大了，包括双侧感音神经性听力障碍和内耳畸形。在此，我们报告了一名患有全面发育迟缓和听力障碍的14个月大的男孩。全外显子组测序（WES）显示，他的父母分别遗传了BRF1基因中的复合杂合变体[NM_001519.4：c.652 T > G (p.W218G); c.915 + 1G > T]。核磁共振成像结果显示小脑蚓部发育不良、大脑室增大、第四脑室突出，康复治疗未能改善患者的症状。我们的发现扩大了BRF1变异体的遗传谱，表明由BRF1变异体引起的发育迟缓患者需要其他治疗而非康复治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

International Journal of Developmental Neuroscience 医学-发育生物学

CiteScore

3.30

自引率

5.60%

发文量

审稿时长

6-12 weeks

期刊介绍： International Journal of Developmental Neuroscience publishes original research articles and critical review papers on all fundamental and clinical aspects of nervous system development, renewal and regeneration, as well as on the effects of genetic and environmental perturbations of brain development and homeostasis leading to neurodevelopmental disorders and neurological conditions. Studies describing the involvement of stem cells in nervous system maintenance and disease (including brain tumours), stem cell-based approaches for the investigation of neurodegenerative diseases, roles of neuroinflammation in development and disease, and neuroevolution are also encouraged. Investigations using molecular, cellular, physiological, genetic and epigenetic approaches in model systems ranging from simple invertebrates to human iPSC-based 2D and 3D models are encouraged, as are studies using experimental models that provide behavioural or evolutionary insights. The journal also publishes Special Issues dealing with topics at the cutting edge of research edited by Guest Editors appointed by the Editor in Chief. A major aim of the journal is to facilitate the transfer of fundamental studies of nervous system development, maintenance, and disease to clinical applications. The journal thus intends to disseminate valuable information for both biologists and physicians. International Journal of Developmental Neuroscience is owned and supported by The International Society for Developmental Neuroscience (ISDN), an organization of scientists interested in advancing developmental neuroscience research in the broadest sense.