Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder
| Autor: | Chihiro Abe-Hatano, Takayuki Yokoi, Kazumi Ida, Kenji Kurosawa |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Molecular Syndromology. 13:517-521 |
| ISSN: | 1661-8777 1661-8769 |
| Popis: | Introduction: Calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations cause microcephaly with pontine and cerebellar hypoplasia (MICPCH) and X-linked intellectual disability. Congenital heart disease (CHD) is a rare complication reported in only 4 male patients with full loss-of-function mutations. Here, we report the first male patient with mosaicism of a truncating variant of CASK complicated by CHD. Case Presentation: The patient is a 6-year-old male with MICPCH, ventricular septal defect, and developmental delay. He achieved rolling over but can not speak meaningful words. We identified a somatic mosaic variant of CASK: c.[725=/G>A], p.(W242*) and high mosaic ratios of 90% and 84% for mutant alleles in peripheral blood lymphocytes and skin fibroblasts, respectively. His developmental delay was severe but milder than that of previously reported CHD patients. Discussion: Truncating CASK variants may be associated with CHD, even in a mosaic state, and even a low normal allele ratio could lengthen survivorship. |
| Databáze: | OpenAIRE |
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