Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report

Hearing loss, both in its syndromic and non-syndromic forms, is the most common sensory disorder, with more than 460 million people affected worldwide. It has been shown that at least 50% of the congenital or childhood hearing loss cases are attributable to genetic causes, leading to the so-called hereditary hearing loss. The correct genetic counselling and molecular diagnosis of hereditary hearing loss are particularly tricky, since they are characterised by a substantial clinical and genetic heterogeneity, partly not yet discovered. In this light, the constant analysis of large cohort patients, together with data sharing between different research groups, is essential for increasing our knowledge on the clinical features of patients and their genetic background, helping in the definition of correct genotype-phenotype correlations. We describe the case of a 7-year-old child affected by apparent non-syndromic hearing loss and presenting with several asymptomatic brain abnormalities caused by mutations in the ADGRV1 gene. The identification of this additional phenotype increases the spectrum of the clinical characteristics of patients carrying pathogenic mutations in the ADGRV1 gene and, therefore, should prompt clinicians to explore the phenotype of these patients.