PMID- 10080183
OWN - NLM
STAT- MEDLINE
DCOM- 19990331
LR  - 20171116
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 21
IP  - 3
DP  - 1999 Mar
TI  - SLC7A7, encoding a putative permease-related protein, is mutated in patients with
      lysinuric protein intolerance.
PG  - 297-301
AB  - Lysinuric protein intolerance (LPI, MIM 222700) is an autosomal recessive
      multisystem disorder found mainly in Finland and Italy. On a normal diet, LPI
      patients present poor feeding, vomiting, diarrhoea, episodes of hyperammoniaemic 
      coma and failure to thrive. Hepatosplenomegaly, osteoporosis and a
      life-threatening pulmonary involvement (alveolar proteinosis) are also seen. LPI 
      is caused by defective cationic amino acid (CAA) transport at the basolateral
      membrane of epithelial cells in kidney and intestine. Metabolic derangement is
      characterized by increased renal excretion of CAA, reduced CAA absorption from
      intestine and orotic aciduria. The gene causing LPI was assigned using linkage
      analysis to chromosome 14q11.2 near the T-cell receptor alpha/delta chains locus,
      and a critical region has been defined. We have identified two new transcripts
      (SLC7A8 and SLC7A7) homologous to amino acid transporters, highly expressed in
      kidney and mapping in the LPI critical region. Mutational analysis of both
      transcripts revealed that SLC7A7 (for solute carrier family 7, member 7) is
      mutated in LPI. In five Italian patients, we found either an insertion or
      deletion in the coding sequence, which provides evidence of a causative role of
      SLC7A7 in LPI. Furthermore, we detected a splice acceptor change resulting in a
      frameshift and premature translation termination in four unrelated Finnish
      patients. This mutation may represent the founder LPI allele in Finland.
FAU - Borsani, G
AU  - Borsani G
AD  - Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science
      Park, Milan, Italy. borsani@tigem.it
FAU - Bassi, M T
AU  - Bassi MT
FAU - Sperandeo, M P
AU  - Sperandeo MP
FAU - De Grandi, A
AU  - De Grandi A
FAU - Buoninconti, A
AU  - Buoninconti A
FAU - Riboni, M
AU  - Riboni M
FAU - Manzoni, M
AU  - Manzoni M
FAU - Incerti, B
AU  - Incerti B
FAU - Pepe, A
AU  - Pepe A
FAU - Andria, G
AU  - Andria G
FAU - Ballabio, A
AU  - Ballabio A
FAU - Sebastio, G
AU  - Sebastio G
LA  - eng
SI  - GENBANK/AB018542
SI  - GENBANK/Y18474
SI  - GENBANK/Y18483
GR  - E.0652/Telethon/Italy
GR  - TGM06S01/Telethon/Italy
GR  - TGM97000/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Amino Acid Transport Systems, Basic)
RN  - 0 (Antigens, CD)
RN  - 0 (Carrier Proteins)
RN  - 0 (Fusion Regulatory Protein-1)
RN  - 0 (Membrane Proteins)
RN  - K3Z4F929H6 (Lysine)
SB  - IM
MH  - Amino Acid Metabolism, Inborn Errors/*genetics
MH  - Amino Acid Sequence
MH  - Amino Acid Transport Systems, Basic
MH  - Antigens, CD/genetics/metabolism
MH  - Biological Transport
MH  - Blotting, Southern
MH  - Carrier Proteins/*genetics/metabolism
MH  - Chromosomes, Artificial, Yeast
MH  - Cloning, Molecular
MH  - Consanguinity
MH  - Expressed Sequence Tags
MH  - Female
MH  - Finland
MH  - Founder Effect
MH  - Fusion Regulatory Protein-1
MH  - Haplotypes
MH  - Homozygote
MH  - Humans
MH  - Italy
MH  - Lysine/urine
MH  - Male
MH  - Membrane Proteins/*genetics/metabolism
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Pedigree
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 - 10.1038/6815 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Mar;21(3):297-301. doi: 10.1038/6815.