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Article

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

American journal of medical genetics. Part A - 1 Jan 2012

Gillis Jane, Burashnikov Elena, Antzelevitch Charles, Blaser Susan, Gross Gil, Turner Lesley, Babul-Hirji Riyana, Chitayat David

Abstract excerpt

Timothy syndrome (TS) is an autosomal dominant condition with the constellation of features including prolonged QT interval, hand and foot abnormalities, and mental retardation or autism. Splawski et al. [2004] previously described two phenotypes associated with TS distinguished by two unique and different mutations within the CACNA1C gene. We report on a newborn who presented with prolonged QT interval and...

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Identifiers

PMID: 22106044
DOI: 10.1002/ajmg.a.34355
PMCID: PMC3319791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.PMID 22106044Read ↗

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

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

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

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