PMID- 10655063
OWN - NLM
STAT- MEDLINE
DCOM- 20000228
LR  - 20111117
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 24
IP  - 2
DP  - 2000 Feb
TI  - A new gene involved in X-linked mental retardation identified by analysis of an
      X;2 balanced translocation.
PG  - 167-70
AB  - X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and
      are likely to be highly heterogeneous. They can be categorized into syndromic
      (MRXS) and nonspecific (MRX) forms. In MRX forms, affected patients have no
      distinctive clinical or biochemical features. At least five MRX genes have been
      identified by positional cloning, but each accounts for only 0.5%-1.0% of MRX
      cases. Here we show that the gene TM4SF2 at Xp11.4 is inactivated by the X
      breakpoint of an X;2 balanced translocation in a patient with MR. Further
      investigation led to identification of TM4SF2 mutations in 2 of 33 other MRX
      families. RNA in situ hybridization showed that TM4SF2 is highly expressed in the
      central nervous system, including the cerebral cortex and hippocampus. TM4SF2
      encodes a member of the tetraspanin family of proteins, which are known to
      contribute in molecular complexes including beta-1 integrins. We speculate that
      through this interaction, TM4SF2 might have a role in the control of neurite
      outgrowth.
FAU - Zemni, R
AU  - Zemni R
AD  - INSERM Unite 129 - ICGM, CHU Cochin, Paris, France.
FAU - Bienvenu, T
AU  - Bienvenu T
FAU - Vinet, M C
AU  - Vinet MC
FAU - Sefiani, A
AU  - Sefiani A
FAU - Carrie, A
AU  - Carrie A
FAU - Billuart, P
AU  - Billuart P
FAU - McDonell, N
AU  - McDonell N
FAU - Couvert, P
AU  - Couvert P
FAU - Francis, F
AU  - Francis F
FAU - Chafey, P
AU  - Chafey P
FAU - Fauchereau, F
AU  - Fauchereau F
FAU - Friocourt, G
AU  - Friocourt G
FAU - des Portes, V
AU  - des Portes V
FAU - Cardona, A
AU  - Cardona A
FAU - Frints, S
AU  - Frints S
FAU - Meindl, A
AU  - Meindl A
FAU - Brandau, O
AU  - Brandau O
FAU - Ronce, N
AU  - Ronce N
FAU - Moraine, C
AU  - Moraine C
FAU - van Bokhoven, H
AU  - van Bokhoven H
FAU - Ropers, H H
AU  - Ropers HH
FAU - Sudbrak, R
AU  - Sudbrak R
FAU - Kahn, A
AU  - Kahn A
FAU - Fryns, J P
AU  - Fryns JP
FAU - Beldjord, C
AU  - Beldjord C
FAU - Chelly, J
AU  - Chelly J
LA  - eng
SI  - GENBANK/AJ250562
SI  - GENBANK/AJ250563
SI  - GENBANK/AJ250564
SI  - GENBANK/AJ250565
SI  - GENBANK/AJ250566
SI  - GENBANK/AJ250567
SI  - GENBANK/AJ250568
SI  - GENBANK/AJ250569
SI  - GENBANK/AJ250570
SI  - GENBANK/AJ250571
SI  - GENBANK/AJ250572
SI  - GENBANK/AJ250573
SI  - GENBANK/AJ250574
SI  - GENBANK/AJ250575
SI  - GENBANK/AJ250576
SI  - GENBANK/AJ250577
SI  - GENBANK/AJ250578
SI  - GENBANK/AJ250579
SI  - GENBANK/D26483
SI  - GENBANK/D29808
SI  - GENBANK/U49081
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Membrane Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (TSPAN7 protein, human)
RN  - 0 (Tetraspanins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Brain/*metabolism
MH  - Cerebral Cortex/metabolism
MH  - Child
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 2
MH  - Exons
MH  - Female
MH  - Hippocampus/metabolism
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Membrane Proteins
MH  - Molecular Sequence Data
MH  - Nerve Tissue Proteins/chemistry/*genetics
MH  - Sequence Alignment
MH  - Sequence Homology, Amino Acid
MH  - Tetraspanins
MH  - *Translocation, Genetic
MH  - *X Chromosome
EDAT- 2000/02/02 09:00
MHDA- 2000/03/04 09:00
CRDT- 2000/02/02 09:00
PHST- 2000/02/02 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 2000/02/02 09:00 [entrez]
AID - 10.1038/72829 [doi]
PST - ppublish
SO  - Nat Genet. 2000 Feb;24(2):167-70. doi: 10.1038/72829.