MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (ASD), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations). There have been only 16 individuals previously reported who have MBOAT7-related intellectual disability, all of whom were younger than 10 years old and from consanguineous relationships. Thus, there is a lack of phenotypic information for adolescent and adult individuals with this disorder. Medical genetics and psychiatric evaluations in a 14-year-old female patient with a history of global developmental delay, intellectual disability, overgrowth with macrocephaly, metrorrhagia, seizures, basal ganglia hyperintensities, nystagmus, strabismus with amblyopia, ASD, anxiety, attention deficit hyperactivity disorder (ADHD), aggressive outbursts, and hyperphagia included a karyotype, methylation polymerase chain reaction for Prader-Willi/Angelman syndrome, chromosome microarray, and whole exome sequencing (WES), ADOS2, and ADI-R. WES identified a homozygous, likely pathogenic variant in the MBOAT7 gene (c.855-2A>G). This is the oldest known patient with MBOAT7-related intellectual disability, whose unique features compared with previously described individuals include overgrowth with macrocephaly, metrorrhagia, ophthalmological abnormalities, basal ganglia hyperintensities, unspecified anxiety disorder, and ADHD; combined type; and hyperphagia with the absence of appendicular hypertonia and cortical atrophy. More individuals need to be identified in order to delineate the full clinical spectrum of this disorder.

中文翻译：

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扩展与MBOAT7相关的智力障碍的表型谱。

MBOAT7基因致病变异是智力障碍，自闭症谱系障碍（ASD），癫痫发作，截断性肌张力低下，阑尾高渗和头部平均大小以下（范围从-1到-3标准偏差）的新发现的罕见原因。以前只有16个人报告了与MBOAT7相关的智力障碍，他们都是10岁以下，并且来自近亲。因此，缺乏针对患有这种疾病的青少年和成年个体的表型信息。一名14岁女性患者的医学遗传学和精神病学评估，该患者具有全球发育迟缓，智力残疾，大头畸形的过度生长，出血性，癫痫发作，基底神经节高血压，眼球震颤，斜视合并弱视，ASD，焦虑症，注意缺陷多动障碍（ADHD），攻击性爆发和食欲亢进包括核型，用于Prader-Willi / Angelman综合征的甲基化聚合酶链反应，染色体微阵列和全外显子组测序（WES），ADOS2和ADI-R。WES在MBOAT7基因（c.855-2A> G）中鉴定出纯合的，可能是病原体。这是已知的与MBOAT7相关的智力残疾的最老患者，与先前描述的患者相比，其独特特征包括大头畸形的过度生长，出血性，眼科异常，基底节神经亢进，未明确的焦虑症和ADHD；组合类型 和食欲亢进，没有阑尾高渗和皮质萎缩。为了确定该疾病的全部临床范围，需要确定更多的个体。