PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: Truncating CASK variants may be associated with CHD, even in a mosaic state, and even a low normal allele ratio could lengthen survivorship.
UNASSIGNED: 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.
UNASSIGNED: Truncating CASK variants may be associated with CHD, even in a mosaic state, and even a low normal allele ratio could lengthen survivorship.
摘要：
未经证实：钙/钙调蛋白依赖性丝氨酸蛋白激酶（CASK）基因突变可导致小头症伴脑桥和小脑发育不全（MICPCH）和X连锁智力障碍。先天性心脏病（CHD）是一种罕见的并发症，仅在4例具有完全功能丧失突变的男性患者中报道。这里,我们报道了首例CASK截短变异体镶嵌性合并冠心病的男性患者。
未经证实：患者是一名患有MICPCH的6岁男性，室间隔缺损,和发育迟缓。他实现了翻滚，但不会说有意义的话。我们确定了CASK的体细胞马赛克变体：c。[725=/G>A]，p。（W242*）以及外周血淋巴细胞和皮肤成纤维细胞中突变等位基因的90％和84％的高镶嵌率，分别。他的发育迟缓严重，但比以前报道的CHD患者更温和。
UNASSIGNED：截短CASK变体可能与CHD有关，即使在马赛克状态下，即使是低的正常等位基因比率也可能延长存活率。
未经证实：患者是一名患有MICPCH的6岁男性，室间隔缺损,和发育迟缓。他实现了翻滚，但不会说有意义的话。我们确定了CASK的体细胞马赛克变体：c。[725=/G>A]，p。（W242*）以及外周血淋巴细胞和皮肤成纤维细胞中突变等位基因的90％和84％的高镶嵌率，分别。他的发育迟缓严重，但比以前报道的CHD患者更温和。
UNASSIGNED：截短CASK变体可能与CHD有关，即使在马赛克状态下，即使是低的正常等位基因比率也可能延长存活率。
