Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep ‐intronic variant in a Chinese child with profound hearing loss

ConclusionOur genetic test results provided precise genetic counseling and prenatal diagnosis for this family, and our findings highlight the power of WGS for detecting deep-intronic variants in patients with undiagnosed rare diseases. Additionally, this case expands the variant spectrum of thePCDH15 gene and our results support the extremely low carrier frequency of c.733C>T in the Chinese population.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research