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首页> 外文期刊>American journal of medical genetics, Part A >Atypical presentations associated with non‐polyalanine repeat PHOX2B PHOX2B mutations
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Atypical presentations associated with non‐polyalanine repeat PHOX2B PHOX2B mutations

机译：与非聚卤胺重复phox2b phox2b突变相关的非典型介绍

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摘要

Congenital central hypoventilation syndrome (CCHS) is a disorder of ventilatory control and autonomic dysregulation that can be caused by mutations in the paired‐like homeobox 2B ( PHOX2B) gene. The majority of CCHS cases are caused by polyalanine repeat mutations (PARMs) in PHOX2B ; however, in rare cases, non‐polyalanine repeat mutations (NPARMs) have been identified. Here, we report two patients with NPARMs in PHOX2B . Patient 1 has a mild CCHS phenotype seen only on polysomnogram, which was performed for desaturations and stridor following a bronchiolitis episode, and characterized by night‐time hypoventilation and a history of ganglioneuroblastoma. She carried a novel de novo missense variant, p.R102S (c.304C??A), in exon 2. Patient 2 has an atypical CCHS phenotype including micrognathia, gastroesophageal reflux, stridor, hypopnea, and intermittent desaturations. Sleep study demonstrated that Patient 2 had daytime and night‐time hypercarbia with obstructive sleep apnea, requiring tracheostomy. On PHOX2B sequencing, she carried a recently identified nonsense variant, p.Y78* (c.234C??G), in exon 1. In summary, we present two patients with CCHS and identified NPARMs in PHOX2B who have distinct differences in phenotype severity, further elucidating the range of clinical outcomes in CCHS and illustrating the necessity of considering PHOX2B mutations when encountering atypical CCHS presentations.
机译：先天性中枢逆向综合征（CCHS）是一种透气控制和自主语失调的疾病，其可以由配对的Homeobox 2b（PHOX2b）基因的突变引起。大多数CCHS病例是由PHOX2B中的聚氨氨基重复突变（PARMS）引起的;然而，在极少数情况下，已经鉴定了非聚卤胺重复突变（NParms）。在这里，我们在Phox2b中报告了两名NParms患者。患者1只有轻度CCHS表型，仅在多瘤表谱上看到，该表型在支气管炎剧集后进行去饱和和光滑，并以夜间呼吸悬浮液和甘然血管瘤的历史为特征。在外显子2中，她携带一种新型Novo畸形变体P.R102S（C.304C？＆βa），患者2具有非典型CCHS表型，包括MicroMathaIa，胃食管反流，前桥，低钠和间歇去腐蚀。睡眠研究表明，患者2患有白天和夜间高肉质，具有阻塞性睡眠呼吸暂停，需要气管造口术。在PHOX2B测序中，她携带最近鉴定的非阵列变体P.Y78 *（C.234C？＆g），在外显子1.总之，我们在具有不同差异的PHOX2B中提出了两名CCHS患者，患有不同差异的PHOX2B患者表型严重程度，进一步阐明CCH中的临床结果的范围，并说明在遇到非典型CCHS演示时考虑PHOX2B突变的必要性。

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