PMID- 10482963
OWN - NLM
STAT- MEDLINE
DCOM- 19991101
LR  - 20220311
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 6
DP  - 1999 Sep
TI  - Recessive Romano-Ward syndrome associated with compound heterozygosity for two
      mutations in the KVLQT1 gene.
PG  - 724-8
AB  - We describe a Swedish family with the proband and his brother suffering from
      severe Romano-Ward syndome (RWS) associated with compound heterozygosity for two 
      mutations in the KVLQT1 (also known as KCNQ1 and KCNA9) gene (R518X and A525T).
      The mutations were found to segregate as heterozygotes in the maternal and the
      paternal lineage, respectively. None of the heterozygotes exhibited clinical long
      QT syndrome (LQTS). No hearing defects were found in the proband. The data
      strongly indicates that the compound heterozygosity for R518X and A525T is the
      cause of an autosomal recessive form of RWS in this family. Our findings support 
      the implication of a higher frequency of gene carriers than previously expected. 
      We suggest that relatives of 'sporadic RWS' patients should be considered
      potential carriers, at risk of dying suddenly from drug-induced LQTS.
FAU - Larsen, L A
AU  - Larsen LA
AD  - Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark.
FAU - Fosdal, I
AU  - Fosdal I
FAU - Andersen, P S
AU  - Andersen PS
FAU - Kanters, J K
AU  - Kanters JK
FAU - Vuust, J
AU  - Vuust J
FAU - Wettrell, G
AU  - Wettrell G
FAU - Christiansen, M
AU  - Christiansen M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (KCNQ Potassium Channels)
RN  - 0 (KCNQ1 Potassium Channel)
RN  - 0 (KCNQ1 protein, human)
RN  - 0 (Potassium Channels)
RN  - 0 (Potassium Channels, Voltage-Gated)
SB  - IM
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Genes, Recessive
MH  - *Heterozygote
MH  - Humans
MH  - Infant, Newborn
MH  - KCNQ Potassium Channels
MH  - KCNQ1 Potassium Channel
MH  - Long QT Syndrome/*genetics
MH  - Male
MH  - *Mutation
MH  - Mutation, Missense
MH  - Pedigree
MH  - Point Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Potassium Channels/*genetics
MH  - *Potassium Channels, Voltage-Gated
EDAT- 1999/09/14 00:00
MHDA- 1999/09/14 00:01
CRDT- 1999/09/14 00:00
PHST- 1999/09/14 00:00 [pubmed]
PHST- 1999/09/14 00:01 [medline]
PHST- 1999/09/14 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200323 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Sep;7(6):724-8. doi: 10.1038/sj.ejhg.5200323.