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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

机译：Mowat-Wilson综合征：一名印尼患者的首例临床和分子报告

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Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also calledSIP1(Smad-interacting protein 1) andZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. Approximately 80% of mutations are nonsense and frameshift mutations (small insertions or deletions). About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis.
机译：Mowat-Wilson综合征（OMIM 235730）是一种遗传病，特征是中度至重度智力残疾，可识别的面部表型和多种先天性异常。除其他特征（例如严重的语言障碍，肌张力减退，小头畸形，身材矮小，癫痫发作，call体发育不全，先天性心脏缺陷，尿道下裂和Hirschsprung疾病）外，醒目的面部表型对于初始临床诊断尤其重要。所有具有典型MWS的分子确诊病例均在锌指E-box蛋白2（ZEB2）基因（也称为SIP1（Smad相互作用蛋白1））和ZFHX1B中具有杂合功能丧失突变，表明单倍功能不足是主要的病理机制。大约80％的突变是无意义和移码突变（小的插入或缺失）。这些突变中大约一半位于第8外显子。在这里，我们报告了第一位通过分子分析证实的印尼Mowat-Wilson综合征患者。

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