Timothy syndrome‐like condition with syndactyly but without prolongation of the QT interval |
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| Authors: | Rika Kosaki Hiroshi Ono Hiroshi Terashima Kenjiro Kosaki |
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| Affiliation: | 1. Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan;2. Division of Cardiology, National Center for Child Health and Development, Tokyo, Japan;3. Division of Neulorogy, National Center for Child Health and Development, Tokyo, Japan;4. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan |
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| Abstract: | Timothy syndrome is characterized by a unique combination of a prolongation of the corrected QT interval of the electrocardiogram and bilateral cutaneous syndactyly of the fingers and the toes and is caused by heterozygous mutations in CACNA1C, a gene encoding a calcium channel. After the discovery of the CACNA1C gene as the causative gene for Timothy syndrome, patients with CACNA1C mutations with QT prolongation but without syndactyly were described. Here, we report a 5‐year‐old female patient with cutaneous syndactyly, developmental delay, and pulmonary hypertension. Exome analysis showed a previously undescribed de novo heterozygous mutation in the CACNA1C gene, p.Arg1024Gly. To our knowledge, this patient is the first to exhibit syndactyly and to carry a CACNA1C mutation but to not have QT prolongation, which has long been considered an obligatory feature of Timothy syndrome. |
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| Keywords: | CACNA1C Long QT syndrome Timothy syndrome |
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