PMID- 10080186
OWN - NLM
STAT- MEDLINE
DCOM- 19990331
LR  - 20071114
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 21
IP  - 3
DP  - 1999 Mar
TI  - Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin,
      cause hereditary megaloblastic anaemia 1.
PG  - 309-13
AB  - Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive
      disorder characterized by juvenile megaloblastic anaemia, as well as neurological
      symptoms that may be the only manifestations. At the cellular level, MGA1 is
      characterized by selective intestinal vitamin B12 (B12, cobalamin) malabsorption.
      MGA1 occurs worldwide, but its prevalence is higher in several Middle Eastern
      countries and Norway, and highest in Finland (0.8/100,000). We previously mapped 
      the MGA1 locus by linkage analysis in Finnish and Norwegian families to a 6-cM
      region on chromosome 10p12.1 (ref. 8). A functional candidate gene encoding the
      intrinsic factor (IF)-B12 receptor, cubilin, was recently cloned; the human
      homologue, CUBN, was mapped to the same region. We have now refined the MGA1
      region by linkage disequilibrium (LD) mapping, fine-mapped CUBN and identified
      two independent disease-specific CUBN mutations in 17 Finnish MGA1 families. Our 
      genetic and molecular data indicate that mutations in CUBN cause MGA1.
FAU - Aminoff, M
AU  - Aminoff M
AD  - Department of Medical Microbiology and Immunology, Comprehensive Cancer Center,
      Ohio State University, Columbus 43210, USA.
FAU - Carter, J E
AU  - Carter JE
FAU - Chadwick, R B
AU  - Chadwick RB
FAU - Johnson, C
AU  - Johnson C
FAU - Grasbeck, R
AU  - Grasbeck R
FAU - Abdelaal, M A
AU  - Abdelaal MA
FAU - Broch, H
AU  - Broch H
FAU - Jenner, L B
AU  - Jenner LB
FAU - Verroust, P J
AU  - Verroust PJ
FAU - Moestrup, S K
AU  - Moestrup SK
FAU - de la Chapelle, A
AU  - de la Chapelle A
FAU - Krahe, R
AU  - Krahe R
LA  - eng
SI  - GENBANK/AF034611
GR  - P30 CA16058/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (intrinsic factor-cobalamin receptor)
SB  - IM
MH  - Amino Acid Sequence
MH  - Anemia, Megaloblastic/*genetics/urine
MH  - Base Sequence
MH  - Blotting, Southern
MH  - Blotting, Western
MH  - Contig Mapping
MH  - Finland
MH  - Haplotypes
MH  - Homozygote
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Microsatellite Repeats
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Norway
MH  - Physical Chromosome Mapping
MH  - Polymorphism, Genetic
MH  - Receptors, Cell Surface/analysis/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Saudi Arabia
MH  - Urine/chemistry
EDAT- 1999/03/18 03:02
MHDA- 2001/03/23 10:01
CRDT- 1999/03/18 03:02
PHST- 1999/03/18 03:02 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/03/18 03:02 [entrez]
AID - 10.1038/6831 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Mar;21(3):309-13. doi: 10.1038/6831.