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

doi:10.1002/ajmg.a.38045

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Article

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

American journal of medical genetics. Part A - 1 Feb 2017

Baurand Amandine, Falcon-Eicher Sylvie, Laurent Gabriel, Villain Elisabeth, Bonnet Caroline, Thauvin-Robinet Christel, Jacquot Caroline, Eicher Jean-Christophe, Gourraud Jean-Baptiste, Schmitt Sébastien, Bézieau Stéphane, Giraud Mathilde, Dumont Solenne, Kuentz Paul, Probst Vincent, Burguet Antoine, Kyndt Florence, Faivre Laurence

Abstract excerpt

Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac...

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Identifiers

PMID: 27868338
DOI: 10.1002/ajmg.a.38045

Genes

KCNH2
KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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