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.
| Original language | English |
|---|---|
| Journal | American Journal of Medical Genetics, Part A |
| DOIs | |
| Publication status | Accepted/In press - 2018 Jan 1 |
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Keywords
- CACNA1C
- Long QT syndrome
- Timothy syndrome
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval. / Kosaki, Rika; Ono, Hiroshi; Terashima, Hiroshi; Kosaki, Kenjiro.
In: American Journal of Medical Genetics, Part A, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval
AU - Kosaki, Rika
AU - Ono, Hiroshi
AU - Terashima, Hiroshi
AU - Kosaki, Kenjiro
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - CACNA1C
KW - Long QT syndrome
KW - Timothy syndrome
UR - http://www.scopus.com/inward/record.url?scp=85046533911&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85046533911&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.38833
DO - 10.1002/ajmg.a.38833
M3 - Article
C2 - 29736926
AN - SCOPUS:85046533911
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
ER -