Frye Richard E
Department of Pediatrics, Division of Child Neurology, Arkansas Children's Hospital, Little Rock, AR 72202, USA.
J Child Neurol. 2012 Jul;27(7):942-9. doi: 10.1177/0883073811429858. Epub 2012 Feb 28.
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this report, for the first time, a girl with autism spectrum disorder is described who exhibits both mitochondrial disease and a 22q13.1-33 duplication. This child demonstrated hypotonia, developmental delays, growth deficiency, microcephaly, dysmorphic facial features, and white matter abnormalities, consistent with previous cases of 22q13 region duplication. The patient also demonstrated a unique pattern of electron transport chain abnormalities with marked decreases in complex II and II/III in fibroblasts and complex I/III and II/III in muscle tissue. The 22q13.1-33 region contains 6 genes associated with mitochondrial function. Thus, disruption of this chromosomal region could cause many of the clinical findings in this child through disruption of mitochondrial function. Therefore, a mitochondrial workup should be considered in individuals with copy number changes within the 22q13 region, such as those with Phelan-McDermid syndrome.
22q13区域的拷贝数变化和线粒体疾病均与自闭症谱系障碍有关。在本报告中，首次描述了一名患有自闭症谱系障碍的女孩，她同时患有线粒体疾病和22q13.1-33重复。该患儿表现出肌张力减退、发育迟缓、生长不足、小头畸形、面部畸形特征和白质异常，与先前22q13区域重复的病例一致。患者还表现出独特的电子传递链异常模式，成纤维细胞中复合物II和II/III显著降低，肌肉组织中复合物I/III和II/III显著降低。22q13.1-33区域包含6个与线粒体功能相关的基因。因此，该染色体区域的破坏可能通过线粒体功能的破坏导致该患儿的许多临床症状。因此，对于22q13区域存在拷贝数变化的个体，如患有费兰-麦克德米德综合征（Phelan-McDermid syndrome）的个体，应考虑进行线粒体检查。
