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Article

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).

BMC medical genetics - 29 Apr 2014

Fröhler Sebastian, Kieslich Moritz, Langnick Claudia, Feldkamp Mirjam, Opgen-Rhein Bernd, Berger Felix, Will Joachim C, Chen Wei

Abstract excerpt

BACKGROUND: Long-QT syndrome (LQTS) causes a prolongation of the QT-interval in the ECG leading to life threatening tachyarrhythmia and ventricular fibrillation. One atypical form of LQTS, Timothy syndrome (TS), is associated with syndactyly, immune deficiency, cognitive and neurological abnormalities as well as distinct cranio-facial abnormalities. CASE PRESENTATION: On a family with both children diagnosed with...

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Identifiers

PMID: 24773605
DOI: 10.1186/1471-2350-15-48
PMCID: PMC4038115

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Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).PMID 24773605Read ↗

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Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.Semantic proximity Read ↗

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.Semantic proximity Read ↗

Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementSemantic proximity Read ↗

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.Semantic proximity Read ↗

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.Semantic proximity Read ↗

A Natural History Study of Timothy SyndromeSemantic proximity Read ↗

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.Semantic proximity Read ↗

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.Semantic proximity Read ↗

Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.Semantic proximity Read ↗

CACNA1C-Related Channelopathies.Semantic proximity Read ↗

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effectsSemantic proximity Read ↗

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