Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy

Nephronophthisis-related ciliopathies (NPH-RC) are important genetically disorders causing chronic renal failure (CRF) in children and adolescents.This group of diseases involved multiple pathogenic genes and organs.We firstly studied the genotype and phenotype spectra in a largest China cohort of NPHP-RC based on national register network (www.ccgkdd.com.cn). NPHP1 and NPHP3 are the most common pathogenic genes, and patients with NPHP3 mutation mostly present early-onset renal failure and cholestasis. This study provide detailed information on extrarenal phenotypes and molecular diagnostic strategies with economic benefit for NPHP-RC, that is helpful for genetic counseling and early diagnosis. (By Dr.Xiaoshan Tang, https://jmg.bmj.com/content/early/2020/12/14/jmedgenet-2020-107184 )

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