PDF(Pubmed)
Abstract：
Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance and is imprinted with paternal silencing, where the paternally inherited allele is silenced, and the maternally inherited allele is active. Congenital hypotonia, palatal abnormalities, intellectual disability, severe feeding difficulties, and dysmorphic facial features characterize this sporadic genetic syndrome. To date, there are approximately 21 molecularly diagnosed individuals worldwide described in the literature. We describe the first known case of Puerto Rican ethnicity, a 16-month-old female born prematurely at 36-weeks with Birk-Barel syndrome, confirmed with whole-exome sequencing, and her response to non-invasive ventilation as a treatment for her sleep breathing disorder.
摘要：
Birk-Barel综合征,或者称为KCNK9印记综合征，是由染色体8q24.3上的钾两孔结构域通道亚家族K成员9（KCNK9）基因的错义突变引起的。这种综合征表现出显性遗传，并印有父系沉默，父系遗传的等位基因沉默，母系遗传的等位基因是活跃的。先天性低张力,腭畸形,智力残疾,严重的喂养困难，畸形面部特征是这种散发性遗传综合征的特征。迄今为止,在文献中描述了全世界大约21个分子诊断个体。我们描述了第一个已知的波多黎各种族案例，一名16个月大的女性早产36周，患有Birk-Barel综合征，用全外显子组测序证实，以及她对无创通气治疗睡眠呼吸障碍的反应。
