Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2025, Vol. 39 ›› Issue (4): 128-134.doi: 10.6040/j.issn.1673-3770.0.2025.101

• Original Article • Previous Articles     Next Articles

Genetic analysis of MARVELD2 gene variants in two deafness cases

LI Jie1, SU Weina2, LIN Qian1, ZHANG Qishu1, HOU Cheng1, YANG Zhenjiao1, XIANG Lili1   

  1. 1. Department of Otolaryngology & Hearing Screening Diagnosis and Treatment Center, Jinan Maternity And Child Care Hospital Affiliated to Shandong First Medical University, Jinan 250001, Shandong, China2. Department of School Infirmary, Shandong Normal University, Jinan 250014, Shandong, China
  • Online:2025-07-20 Published:2025-08-11

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Abstract: Objective Next generation sequencing technology was used to investigate the potential genetic causes of deafness in two probands and their families. Methods A retrospective analysis was conducted on two probands and their family members. This analysis included collecting medical histories, performing physical examinations, conducting audiological evaluations, and performing genetic testing and analysis for deafness. Results Both probands exhibited bilateral profound sensorineural hearing loss and had no other systemic abnormalities or syndromic features. Genetic testing revealed pathogenic variants in the MARVELD2 gene in both probands,either homozygous or compound heterozygous. The proband in family A carried a homozygous c.1331+1G>A variant that she inherited from her parents. The proband in family B carried compound heterozygous variants c.1331+1G>A/c.782G>A(p.Gly261Glu)and transmitted the heterozygous c.1331+1G>A variant to her daughter. Conclusion This study strengthens the evidence that loss-of-function variants in the MARVELD2 gene can cause profound sensorineural hearing loss. Testing for the MARVELD2 gene is significant for screening, diagnosing, and providing prenatal genetic counseling for deafness.

Key words: Deafness, MARVELD2 gene, Genetic, Next generation sequencing technology, Severe sensorineural hearing loss

CLC Number: 

  • R764.43
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