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Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss
CONCLUSION: Our 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 the PCDH15 gene and our results support the extremely low carrier frequency of c.733C>T in the Chinese population.PMID:37232061 | DOI:10.1002/mgg3.2193 (Source: Molecular Medicine)
Source: Molecular Medicine - May 26, 2023 Category: Molecular Biology Authors: Ziying Yang Minhong Huang Xiuxiu Wei Jun Sun Fuping Zhang Source Type: research