ArticlePediatrics2013
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.
Article in Pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Geno- and phenotypic characteristics and clinical outcomes ofFrontiers in cardiovascular medicine · 2022Pooled it
- A Natural History Study of Timothy Syndrome.Orphanet journal of rare diseases · 2024Article
- Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.Nature communications · 2024Article
- [Digital precision medicine in rhythmology : Risk prediction of recurrences, sudden cardiac death, and outcome].Herzschrittmachertherapie & Elektrophysiologie · 2024Review
- Maternal mosaicism in long QT syndrome due to a pathogenic variant inHeartRhythm case reports · 2021Article
- Update on the Molecular Genetics of Timothy Syndrome.Frontiers in pediatrics · 2021Review
- Voltage-Gated CaFrontiers in synaptic neuroscience · 2021Review
- Clinical characterization and outcome of prolonged heart rate-corrected QT interval among children with syndactyly.Medicine · 2020Article
- Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside.Experimental biology and medicine (Maywood, N.J.) · 2019Article
- The genetic architecture of long QT syndrome: A critical reappraisal.Trends in cardiovascular medicine · 2018Review
- Early somatic mosaicism is a rare cause of long-QT syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Cardiac arrest refractory to standard intervention in atypical Timothy syndrome (LQT8 type 2).Proceedings (Baylor University. Medical Center) · 2016Article
- Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.Nature communications · 2016Article
- A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.Annals of human genetics · 2015Article
- Calcium Channel Mutations in Cardiac Arrhythmia Syndromes.Current molecular pharmacology · 2015Review
- Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Frontiers in pediatrics · 2013Review
- Genotype- and phenotype-guided management of congenital long QT syndrome.Current problems in cardiology · 2013Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening multisystem disorder characterized by severe QT interval prolongation, syndactyly, and several other complications. Although full TS1 is caused by a single missense mutation in the CACNA1C-encoded cardiac calcium channel, mosaic TS1 parents can display isolated syndactyly without additional phenotypic manifestations. A newborn boy presented with syndactyly at birth. The presence of syndactyly in his mother led to a diagnosis of benign familial syndactyly. However, at 9 months of age, during his first syndactyly-corrective surgery, intraoperative electrocardiograms revealed extreme QT prolongation and 2:1 atrioventricular block. A comprehensive cardiac evaluation was performed, and both mother and child were tested genetically, confirming a clinical suspicion of TS1. Only the patient tested positive for the TS1 mutation; however, more extensive molecular testing revealed a limited presence of the mutation in maternally-derived DNA. This case illustrates the potential of parental mosaicism to confound the diagnosis of potentially life-threatening genetic diseases, such as TS1. Here, a mother with a partial TS1 phenotype and genetically confirmed mosaicism transmitted the TS1-causative mutation to her son, resulting in fully expressive TS1. Thus, a shared partial phenotype should not be dismissed as a benign or insignificant finding, but should be evaluated further to rule out the possibility of parental mosaicism concealing a potentially fatal heritable disease.
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