PMID- 10072434
OWN - NLM
STAT- MEDLINE
DCOM- 19990429
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 4
DP  - 1999 Apr
TI  - Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient
      cellular carnitine uptake in primary carnitine deficiency.
PG  - 655-60
AB  - Systemic primary carnitine deficiency (CDSP, OMIM 212140) is an autosomal
      recessive disease characterized by low serum and intracellular concentrations of 
      carnitine. CDSP may present with acute metabolic derangement simulating Reye's
      syndrome within the first 2 years of life. After 3 years of age, patients with
      CDSP may present with cardiomyopathy and muscle weakness. A linkage with D5S436
      in 5q was reported in a family. A recently cloned homologue of the organic cation
      transporter, OCTN2, which has sodium-dependent carnitine uptake properties, was
      also mapped to the same locus. We screened for mutation in OCTN2 in a confirmed
      CDSP family. One truncating mutation (Trp132Stop) and one missense mutation
      (Pro478Leu) of OCTN2 were identified together with two silent polymorphisms.
      Expression of the mutant cDNAs revealed virtually no uptake activity for both
      mutations. Our data indicate that mutations in OCTN2 are responsible for CDSP.
      Identification of the underlying gene in this disease will allow rapid detection 
      of carriers and postnatal diagnosis of affected patients.
FAU - Tang, N L
AU  - Tang NL
AD  - Department of Chemical Pathology and Department of Paediatrics, Prince of Wales
      Hospital, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong 
      Kong, People's Republic of China. nelsontang@cuhk.edu.hk
FAU - Ganapathy, V
AU  - Ganapathy V
FAU - Wu, X
AU  - Wu X
FAU - Hui, J
AU  - Hui J
FAU - Seth, P
AU  - Seth P
FAU - Yuen, P M
AU  - Yuen PM
FAU - Wanders, R J
AU  - Wanders RJ
FAU - Fok, T F
AU  - Fok TF
FAU - Hjelm, N M
AU  - Hjelm NM
LA  - eng
PT  - Journal Article
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (Organic Cation Transport Proteins)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 0 (SLC22A5 protein, human)
RN  - 0 (Solute Carrier Family 22 Member 5)
RN  - S7UI8SM58A (Carnitine)
SB  - IM
EIN - Hum Mol Genet 1999 May;8(5):943
MH  - Amino Acid Sequence
MH  - Biological Transport/genetics
MH  - Carnitine/*deficiency/*pharmacokinetics
MH  - Carrier Proteins/*genetics
MH  - Cell Line
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Gene Expression Regulation
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Molecular Sequence Data
MH  - Mutation
MH  - *Organic Cation Transport Proteins
MH  - Pedigree
MH  - Recombinant Fusion Proteins/genetics
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Solute Carrier Family 22 Member 5
EDAT- 1999/03/11 00:00
MHDA- 1999/03/11 00:01
CRDT- 1999/03/11 00:00
PHST- 1999/03/11 00:00 [pubmed]
PHST- 1999/03/11 00:01 [medline]
PHST- 1999/03/11 00:00 [entrez]
AID - ddc072 [pii]
AID - 10.1093/hmg/8.4.655 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Apr;8(4):655-60. doi: 10.1093/hmg/8.4.655.