PMID- 10051009
OWN - NLM
STAT- MEDLINE
DCOM- 19990512
LR  - 20181113
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 2
DP  - 1999 Feb
TI  - Mutation screening of the RYR1 gene and identification of two novel mutations in 
      Italian malignant hyperthermia families.
PG  - 115-8
AB  - Point mutations in the ryanodine receptor (RYR1) gene are associated with
      malignant hyperthermia, an autosomal dominant disorder triggered in susceptible
      people (MHS) by volatile anaesthetics and depolarising skeletal muscle relaxants.
      To date, 17 missense point mutations have been identified in the human RYR1 gene 
      by screening of the cDNA obtained from muscle biopsies. Here we report single
      strand conformation polymorphism (SSCP) screening for nine of the most frequent
      RYR1 mutations using genomic DNA isolated from MHS patients. In addition, the
      Argl63Cys mutation was analysed by restriction enzyme digestion. We analysed 57
      unrelated patients and detected seven of the known RYR1 point mutations.
      Furthermore, we found a new mutation, Arg2454His, segregating with the MHS
      phenotype in a large pedigree and a novel amino acid substitution at position
      2436 in another patient, indicating a 15.8% frequency of these mutations in
      Italian patients. A new polymorphic site in intron 16 that causes the
      substitution of a G at position -7 with a C residue was identified.
FAU - Barone, V
AU  - Barone V
AD  - DIBIT San Raffaele Scientific Institute, Milano, Italy.
FAU - Massa, O
AU  - Massa O
FAU - Intravaia, E
AU  - Intravaia E
FAU - Bracco, A
AU  - Bracco A
FAU - Di Martino, A
AU  - Di Martino A
FAU - Tegazzin, V
AU  - Tegazzin V
FAU - Cozzolino, S
AU  - Cozzolino S
FAU - Sorrentino, V
AU  - Sorrentino V
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (DNA Primers)
RN  - 0 (Ryanodine Receptor Calcium Release Channel)
RN  - 3G6A5W338E (Caffeine)
RN  - UQT9G45D1P (Halothane)
SB  - IM
MH  - Caffeine/metabolism
MH  - DNA Primers
MH  - Female
MH  - Halothane/metabolism
MH  - Humans
MH  - Italy
MH  - Male
MH  - Malignant Hyperthermia/*genetics
MH  - Muscles/metabolism
MH  - Myopathies, Nemaline/genetics
MH  - Pedigree
MH  - Point Mutation
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - Ryanodine Receptor Calcium Release Channel/*genetics
PMC - PMC1734304
EDAT- 1999/03/02 00:00
MHDA- 1999/03/02 00:01
CRDT- 1999/03/02 00:00
PHST- 1999/03/02 00:00 [pubmed]
PHST- 1999/03/02 00:01 [medline]
PHST- 1999/03/02 00:00 [entrez]
PST - ppublish
SO  - J Med Genet. 1999 Feb;36(2):115-8.