Goldberg-Shprintzen syndrome (GOSHS) is characterized by microcephaly, developmental delay, dysmorphic features, Hirschsprung disease (HSCR), and brain anomalies. The kinesin family binding protein (KIFBP; MIM 60937) gene has been identified as the responsible gene of the syndrome. To date, 16 different biallelic KIFBP mutations have been identified in 34 patients with GOSHS. Even though most of these mutations are nonsense and frameshift, 3 missense mutations have also been described. Here, we report an 18-month-old patient with microcephaly, developmental delay, dysmorphic features and HSCR. Exome analysis was performed to clarify the etiology of the clinical features. A previously unreported homozygous c.1723delC (p.H575Ifs*19) variant was detected in the last exon 7 of KIFBP which led to GOSHS. According to our findings, we suggest that this mutation expands mutational databases and contributes to the understanding of the phenotypic features of the syndrome.
Mol Syndromol

中文翻译：

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Goldberg-Shprintzen 综合征与 KIFBP 基因的一个新变体相关

Goldberg-Shprintzen 综合征 (GOSHS) 的特征是小头畸形、发育迟缓、畸形特征、先天性巨结肠 (HSCR) 和脑异常。驱动蛋白家族结合蛋白（KIFBP；MIM 60937）基因已被确定为该综合征的负责基因。迄今为止，已在 34 名 GOSHS 患者中鉴定出16 种不同的双等位基因KIFBP突变。尽管这些突变中的大多数是无义和移码，但也描述了 3 种错义突变。在这里，我们报告了一名患有小头畸形、发育迟缓、畸形特征和 HSCR 的 18 个月大的患者。进行外显子组分析以阐明临床特征的病因。在最后一个外显子 7 中检测到以前未报告的纯合 c.1723delC (p.H575Ifs*19) 变体KIFBP这导致了 GOSHS。根据我们的研究结果，我们建议这种突变扩展了突变数据库并有助于了解该综合征的表型特征。
摩尔综合征