PMID- 10660340
OWN - NLM
STAT- MEDLINE
DCOM- 20000203
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - Two novel mutations consisting in minor gene rearrangements in the human low
      density lipoprotein receptor gene in Italian patients affected by familial
      hypercholesterolemia. Mutations in brief no. 194. Online.
PG  - 290
AB  - Mutations in the low density lipoprotein (LDL)-receptor gene cause familial
      hypercholesterolemia (FH), an autosomal dominant disease associated to an
      increased risk of premature atherosclerosis. We describe two novel mutations
      found in Italian families and consisting in minor gene rearrangements. The first 
      one (FH-Pisa) is a tetranucleotide insertion occurring in exon 8, which causes a 
      frameshift and a premature stop codon. The second one (FH-Chieti3) occurs at the 
      3'-end of exon 4 and consists in a trinucleotide deletion replaced by a six-base 
      insertion, so that the reading frame is maintained with a glutamic
      acid-to-cysteine substitution at codon 207 and the insertion of a lysine at codon
      208. Both mutations occur in regions of the LDL-receptor gene which can be
      considered hotspots for minor rearrangements.
FAU - Motti, C
AU  - Motti C
AD  - Department of Internal Medicine, Clinical Biochemistry, University of Tor
      Vergata, Rome, Italy.
FAU - Bertolini, S
AU  - Bertolini S
FAU - Rampa, P
AU  - Rampa P
FAU - Trovatello, G
AU  - Trovatello G
FAU - Liberatoscioli, L
AU  - Liberatoscioli L
FAU - Calandra, S
AU  - Calandra S
FAU - Federici, G
AU  - Federici G
FAU - Cortese, C
AU  - Cortese C
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Receptors, LDL)
RN  - 3KX376GY7L (Glutamic Acid)
RN  - K3Z4F929H6 (Lysine)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Amino Acid Substitution/genetics
MH  - Cysteine/genetics
MH  - Frameshift Mutation/*genetics
MH  - Glutamic Acid/genetics
MH  - Humans
MH  - Hyperlipoproteinemia Type II/*genetics
MH  - Italy
MH  - Lysine/genetics
MH  - Receptors, LDL/*genetics
EDAT- 2000/02/05 00:00
MHDA- 2000/02/05 00:01
CRDT- 2000/02/05 00:00
PHST- 2000/02/05 00:00 [pubmed]
PHST- 2000/02/05 00:01 [medline]
PHST- 2000/02/05 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):290.