Two novel NPHS1 mutations  in a Chinese family with congenital nephrotic syndrome.
Congenital  nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive  disorder mainly caused by mutations in the NPHS1 gene; it is found at a  relatively high frequency in Finns. We investigated the disease-causing  mutations in a Chinese family with CNF and developed a prenatal genetic  diagnosis for their latest pregnancy. Mutation analysis was made of all exons  and exon/intron boundaries of NPHS1 in the fetus, parents and 50  unrelated controls using PCR and direct sequencing. A heterozygous nonsense  mutation within exon 20 (c.2783C>A) and a missense mutation within exon 17  (c.2225T>C) in NPHS1 were detected in the proband's father and  mother, respectively, but were not found in the fetus or in 50 unrelated  controls. Two novel mutations of c.2783C>A and c.2225T>C in NPHS1 were  found to be causative in this Chinese CNF family with no known Finnish  ancestry. The most recent sibling did not inherit these two mutations and hence  was unaffected with CNF. Determining the cumulative number and ethnic  distribution of known mutations can help expedite further study of the  pathogenesis of CNF.
State Key Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
L Q
LQ
Wu
J J
JJ
Hu
J J
JJ
Xue
D S
DS
Liang
D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D002681:China / Q000208:ethnology; D018389:Codon, Nonsense; D005091:Exons / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy
D018389:Codon, Nonsense; D008565:Membrane Proteins; C113267:nephrin