PMID- 10319589
OWN - NLM
STAT- MEDLINE
DCOM- 19990608
LR  - 20191210
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 3
DP  - 1999
TI  - Identification of three novel mutations in the MNK gene in three unrelated
      Japanese patients with classical Menkes disease.
PG  - 206-9
AB  - Menkes disease is an X-linked recessive disorder of the copper membrane transport
      system caused by mutations to the Menkes (MNK) gene. We identified three novel
      mutations of the MNK gene in three unrelated Japanese patients with classical
      Menkes disease by analyzing reverse-transcriptase polymerase chain reaction
      products and genomic DNA of the MNK gene. Firstly, an insertional mutation was
      found, 1173 ins A, which led to a premature termination and resulted in a very
      immature Menkes protein. Secondly, we found a point mutation, T2763G, resulting
      in a leucine-to-arginine conversion, which we predicted would cause a change in
      the secondary structure of the Menkes protein. Finally, we identified a splicing 
      mutation, 2317 + 5G > C, which resulted in the skipping of both exons 8 and 9 or 
      exon 9 only, and led to a truncation of the protein. Each of these mutations is
      hypothesized to destroy copper-ATPase-mediated copper transport. We propose that 
      each of these mutations in the MNK gene plays a causative role in the disease.
FAU - Ogawa, A
AU  - Ogawa A
AD  - Department of Pediatrics, Chiba University School of Medicine, Japan.
      aogawa@pediat3.m.chiba-u.ac.jp
FAU - Yamamoto, S
AU  - Yamamoto S
FAU - Takayanagi, M
AU  - Takayanagi M
FAU - Kogo, T
AU  - Kogo T
FAU - Kanazawa, M
AU  - Kanazawa M
FAU - Kohno, Y
AU  - Kohno Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Carrier Proteins)
RN  - 0 (Cation Transport Proteins)
RN  - 0 (RNA, Messenger)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 789U1901C5 (Copper)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 7.2.2.8 (ATP7A protein, human)
RN  - EC 7.2.2.8 (Copper-Transporting ATPases)
SB  - IM
MH  - Adenosine Triphosphatases/*genetics
MH  - Carrier Proteins/*genetics
MH  - *Cation Transport Proteins
MH  - Cells, Cultured
MH  - Child
MH  - Child, Preschool
MH  - Copper/analysis
MH  - Copper-Transporting ATPases
MH  - Fibroblasts/cytology
MH  - Humans
MH  - Japan
MH  - Menkes Kinky Hair Syndrome/diagnosis/*genetics
MH  - Mutagenesis, Insertional
MH  - *Mutation
MH  - Point Mutation
MH  - RNA Splicing
MH  - RNA, Messenger/genetics
MH  - *Recombinant Fusion Proteins
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
EDAT- 1999/05/13 00:00
MHDA- 1999/05/13 00:01
CRDT- 1999/05/13 00:00
PHST- 1999/05/13 00:00 [pubmed]
PHST- 1999/05/13 00:01 [medline]
PHST- 1999/05/13 00:00 [entrez]
AID - 10.1007/s100380050144 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(3):206-9. doi: 10.1007/s100380050144.