"The genetic investigation revealed a novel homozygous nonsense mutation p. E697X 37 and a novel homozygous missense mutation p. F691 L in the NPHP1 gene. His parents and fraternal twin harbored heterozygous mutations of the two loci and had no renal symptoms. His elder sister developed ESRD and died at 23 years of age. CONCLUSIONS: The report indicated that adult NPHP should be taken into consideration for adults with"xsd:string