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Background   LAMB2  mutations cause Pierson syndrome (OMIM 609049), an autosomal recessive genetic disease typically characterized by congenital nephrotic syndrome (CNS) and early onset renal failure, as well as bilateral microcoria.  NPHP1  mutations cause familial juvenile nephronophthisis type 1 ( NPHP1 , OMIM 256100), another autosomal recessive renal disease that usually occurs years after birth. Both Pierson syndrome and nephronophthisis cause end-stage renal disease and rare kidney diseases in children. We report an extremely rare case of concurrent mutations of  LAMB2  and  NPHP1  in a Chinese girl with isolated CNS and the association of the phenotype with novel non-truncating mutations of  LAMB2 .    Case presentation  A-34-day-old girl presented with CNS but no eye abnormalities, and mild hyperechogenicity of kidneys. A novel c.1176_1178delTCT mutation caused deletion of a glycine in exon 9 of  LAMB2 , and another mutation c.4923 + 2 T > G led to a splicing error. In addition, compound heterozygous mutations of  NPHP1  were identified in this child using next generation sequencing, and confirmed by Sanger sequencing.    Conclusion  Mutations of the  LAMB2  and  NPHP1  are present in infants with isolated CNS. Next generation sequencing enabled high-throughput screening for mutant genes promptly, with clinically significant outcomes. In addition, our results expand the phenotype spectrum of  LAMB2  mutations as the only renal manifestation.

Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report