A Recessive Variant of the Romano-Ward Long-QT Syndrome?
Key result
A homozygous missense mutation in the KVLQT1 gene caused a recessive form of Romano-Ward long-QT syndrome with normal hearing, while heterozygous parents had normal QT intervals.
Population
A consanguineous family with the clinical phenotype of Long-QT syndrome, including a 9-year-old boy proband…
Design
Case_report
Authors
Discussion
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Implication
Suggests possible recessive Romano-Ward LQTS without deafness; hypothesis-generating and requires confirmation in additional families.
Study Design
Type
Case Report (n=3)
Structured PICO
P
Population
A consanguineous family including a 9-year-old boy with long-QT syndrome and his heterozygous parents.
E
Exposure
Genetic screening of the KVLQT1 gene and functional evaluation of mutant channel activity using double microelectrode technique in Xenopus oocytes.
O
Outcome
Identification of KVLQT1 mutations and functional characterization of the mutant channel activity (total current, activation shift, activation rate).surrogate
This study provides the first evidence of a recessive form of Romano-Ward long-QT syndrome caused by a homozygous KVLQT1 mutation that does not produce deafness (Jervell and Lange-Nielsen syndrome).
Cite This Study
Priori et al. (1998) conducted a case report in Long-QT syndrome (n=3). Homozygous missense mutation in KVLQT1 vs. Heterozygous state (parents) was evaluated on Clinical phenotype and functional evaluation of mutant channel activity. A homozygous missense mutation in the KVLQT1 gene caused a recessive form of Romano-Ward long-QT syndrome with normal hearing, while heterozygous parents had normal QT intervals.