PMID- 10652016
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20051117
IS  - 0085-2538 (Print)
IS  - 0085-2538 (Linking)
VI  - 57
IP  - 2
DP  - 2000 Feb
TI  - Novel mutation in the nephrin gene of a Japanese patient with congenital
      nephrotic syndrome of the Finnish type.
PG  - 401-4
AB  - BACKGROUND: Congenital nephrotic syndrome (CNS) of the Finnish type is a rare
      autosomal-recessive disorder. Kestila et al reported that a positionally cloned
      gene for a novel glomerular protein nephrin is mutated in CNS. Most Finnish
      patients have one of two mutations. In this study, we described a Japanese CNS
      family associated with a novel missense point mutation in the nephrin gene.
      METHODS: Reverse transcription-polymerase chain reaction, polymerase chain
      reaction, and sequence analysis were used. RESULTS: The patient had the three
      missense mutations homozygously. One mutation was already reported as sequence
      variant. The two other novel mutations were the GAG to AAG transition, leading to
      a Glu447Lys and the GAC to GTC transition, predicting an Asp819Val substitution
      in the nephrin protein. CONCLUSION: Our findings indicate that an abnormality of 
      nephrin may cause CNS of the Finnish type in Japanese subjects.
FAU - Aya, K
AU  - Aya K
AD  - Department of Pediatrics, Okayama University Medical School, Okayama, Japan.
FAU - Tanaka, H
AU  - Tanaka H
FAU - Seino, Y
AU  - Seino Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Kidney Int
JT  - Kidney international
JID - 0323470
RN  - 0 (Membrane Proteins)
RN  - 0 (Proteins)
RN  - 0 (nephrin)
SB  - IM
MH  - Asian Continental Ancestry Group/genetics
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Finland
MH  - Humans
MH  - Infant
MH  - Japan
MH  - Kidney Glomerulus/chemistry
MH  - Male
MH  - Membrane Proteins
MH  - Nephrotic Syndrome/*congenital/*genetics
MH  - Nuclear Family
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Proteins/*genetics
EDAT- 2000/01/29 09:00
MHDA- 2000/03/11 09:00
CRDT- 2000/01/29 09:00
PHST- 2000/01/29 09:00 [pubmed]
PHST- 2000/03/11 09:00 [medline]
PHST- 2000/01/29 09:00 [entrez]
AID - S0085-2538(15)46755-9 [pii]
AID - 10.1046/j.1523-1755.2000.00859.x [doi]
PST - ppublish
SO  - Kidney Int. 2000 Feb;57(2):401-4. doi: 10.1046/j.1523-1755.2000.00859.x.