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

Table 1 LAMB2 and NPHP1 mutations

Gene	region	Nucleotide change	Reference transcript	Amino acid change	Chromosomal location	Hom /Het*
LAMB2	Exon9	c.1176_1178delTCT	NM_002292.3	p. Phe392del	Chr3:49167708	Het
LAMB2	Intron29	c.4923 + 2 T > G	NM_002292.3	-	Chr3:49159375	Het
NPHP1	Exon 8	c.922 T > C	NM_000272.3	p.Ser308Pro	Chr2:110922114	Het
NPHP1	Exon 17	c.1757G > A	NM_000272.3	p.Arg586Gln	Chr2:110889309	Het

ISSN: 1471-2431