< em > GPR143 < /em > mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China

CONCLUSIONS: We discovered seven novel mutations and four previously reported mutations of GPR143 in a cohort of families with X-linked INS and enlarged the Chinese genetic spectrum of INS. These findings offer new insights for developing genetic screening strategies and shed light on the importance of conducting genetic analysis in confirming the clinical diagnosis in unresolved patients and atypical phenotypes.PMID:38222445 | PMC:PMC10784212

Source: Molecular Vision - January 15, 2024 Category: Molecular Biology Authors: Jingling Xu Yihan Zheng Lulu Cheng Huihui Sun Xinping Yu Feng Gu E Song Source Type: research