PMID- 10631139
OWN - NLM
STAT- MEDLINE
DCOM- 20000309
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 66
IP  - 1
DP  - 2000 Jan
TI  - Structure of the SLC7A7 gene and mutational analysis of patients affected by
      lysinuric protein intolerance.
PG  - 92-9
AB  - Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of
      cationic amino acid transport caused by mutations in the SLC7A7 gene. We report
      the genomic structure of the gene and the results of the mutational analysis in
      Italian, Tunisian, and Japanese patients. The SLC7A7 gene consists of 10 exons;
      sequences of all of the exon-intron boundaries are reported here. All of the
      mutant alleles were characterized and eight novel mutations were detected,
      including two missense mutations, 242A-->C (M1L) and 1399C-->A (S386R); a
      nonsense mutation 967G-->A (W242X); two splice mutations IVS3 +1G-->A and IVS6
      +1G-->T; a single-base insertion, 786insT; and two 4-bp deletions, 455delCTCT and
      1425delTTCT. In addition, a previously reported mutation, 1625insATCA, was found 
      in one patient. It is noteworthy that 242A-->C causes the change of Met1 to Leu, 
      a rare mutational event previously found in a few inherited conditions. We failed
      to establish a genotype/phenotype correlation. In fact, both intrafamilial and
      interfamilial phenotypic variability were observed in homozygotes for the same
      mutation. The DNA-based tests are now easily accessible for molecular diagnosis, 
      genetic counseling, and prenatal diagnosis of LPI.
FAU - Sperandeo, M P
AU  - Sperandeo MP
AD  - Department of Pediatrics, Federico II University, Naples.
FAU - Bassi, M T
AU  - Bassi MT
FAU - Riboni, M
AU  - Riboni M
FAU - Parenti, G
AU  - Parenti G
FAU - Buoninconti, A
AU  - Buoninconti A
FAU - Manzoni, M
AU  - Manzoni M
FAU - Incerti, B
AU  - Incerti B
FAU - Larocca, M R
AU  - Larocca MR
FAU - Di Rocco, M
AU  - Di Rocco M
FAU - Strisciuglio, P
AU  - Strisciuglio P
FAU - Dianzani, I
AU  - Dianzani I
FAU - Parini, R
AU  - Parini R
FAU - Candito, M
AU  - Candito M
FAU - Endo, F
AU  - Endo F
FAU - Ballabio, A
AU  - Ballabio A
FAU - Andria, G
AU  - Andria G
FAU - Sebastio, G
AU  - Sebastio G
FAU - Borsani, G
AU  - Borsani G
LA  - eng
SI  - GENBANK/Y18474
GR  - E.0652/Telethon/Italy
GR  - TGM00S01/Telethon/Italy
GR  - TGM06S01/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Amino Acid Transport Systems, Basic)
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Amino Acid Metabolism, Inborn Errors/*genetics
MH  - Amino Acid Transport Systems, Basic
MH  - Carrier Proteins/*genetics
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Female
MH  - Humans
MH  - Introns
MH  - Italy
MH  - Japan
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Molecular Sequence Data
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single-Stranded Conformational
MH  - Tunisia
PMC - PMC1288352
EDAT- 2000/01/13 09:00
MHDA- 2000/03/21 09:00
CRDT- 2000/01/13 09:00
PHST- 2000/01/13 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 2000/01/13 09:00 [entrez]
AID - S0002-9297(07)62235-6 [pii]
AID - 10.1086/302700 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700.