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

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Nov 2024

Yin Hongwei, Yu Yonglin, Shen Yingying

Abstract excerpt

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...

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Developmental Disabilities
Exome Sequencing
Hearing Loss, Sensorineural
Infant
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nervous System Malformations

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PMID: 39005000
DOI: 10.1002/jdn.10365

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