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Abstract：
Background: To report detailed knowledge about the clinical manifestations, genetic spectrum as well as physical, language, neurodevelopment features and genotype-phenotype correlations of Chinese patients with Mowat-Wilson syndrome (MWS). Methods: We retrospectively collected and analyzed clinical data for twenty-two patients with molecularly confirmed diagnoses. We used Gesell Developmental Schedules (GDS) to assess their neurodevelopment and the Diagnostic Receptive and Expressive Assessment of Mandarin-Infant & Toddler (DREAM-IT) to evaluate their language ability and compared the data with the two types of underlying pathogenic variations. Results: The height and weight of all patients were below the 75th percentile, and microcephaly was observed in 16 of 22 patients (72.7%). Four patients carrying chromosome deletions encompassing the ZEB2 gene were more severely affected. All MWS patients exhibited better performance in cognitive play and social communication than in receptive and expressive language. In the receptive language area, the types of words that children with MWS understood most were nouns, followed by adjectives and verbs. Conclusion: This study delineated the phenotypic spectrum of the largest MWS cohort in China and provided comprehensive profiling of their physical, language, neurodevelopment features and genotype-phenotype correlations.
摘要：
背景：报告有关临床表现的详细知识，遗传谱以及物理，语言,中国Mowat-Wilson综合征（MWS）患者的神经发育特征和基因型-表型相关性。方法：回顾性收集和分析22例分子确诊患者的临床资料。我们使用Gesell发育时间表（GDS）来评估他们的神经发育，并使用普通话-婴儿和幼儿的诊断性接受和表达性评估（DREAM-IT）来评估他们的语言能力，并将数据与两种潜在的致病变异进行比较。结果：所有患者的身高和体重均低于第75百分位数，22例患者中有16例(72.7%)出现小头畸形。四名携带包含ZEB2基因的染色体缺失的患者受到了更严重的影响。所有MWS患者在认知游戏和社交交流方面的表现均优于接受和表达语言。在接受语言领域，患有MWS的孩子最理解的单词类型是名词，其次是形容词和动词。结论：这项研究描述了中国最大的MWS队列的表型谱，并提供了其身体特征的全面分析，语言,神经发育特征和基因型-表型相关性。
