Rankin Jessica K, Andrews Caroline, Chan Wai-Man, Engle Elizabeth C
Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.
J AAPOS. 2010 Feb;14(1):78-80. doi: 10.1016/j.jaapos.2009.11.007.
The HOXA1-related syndromes result from autosomal-recessive truncating mutations in the homeobox transcription factor, HOXA1. Limited horizontal gaze and sensorineural deafness are the most common features; affected individuals can also have facial weakness, mental retardation, autism, motor disabilities, central hypoventilation, carotid artery, and/or conotruncal heart defects. Möbius syndrome is also phenotypically heterogeneous, with minimal diagnostic criteria of nonprogressive facial weakness and impaired ocular abduction; mental retardation, autism, motor disabilities, additional eye movements restrictions, hearing loss, hypoventilation, and craniofacial, lingual, and limb abnormalities also occur. We asked, given the phenotypic overlap between these syndromes and the variable expressivity of both disorders, whether individuals with Möbius syndrome might harbor mutations in HOXA1. Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population.
HOXA1相关综合征由同源盒转录因子HOXA1的常染色体隐性截短突变引起。水平凝视受限和感音神经性耳聋是最常见的特征；受影响个体还可能有面部无力、智力迟钝、自闭症、运动障碍、中枢性通气不足、颈动脉和/或圆锥动脉干心脏缺陷。默比厄斯综合征在表型上也具有异质性，其最低诊断标准为非进行性面部无力和眼球外展受损；智力迟钝、自闭症、运动障碍、额外的眼球运动受限、听力丧失、通气不足以及颅面、舌和肢体异常也会出现。鉴于这些综合征之间的表型重叠以及两种疾病的可变表达性，我们不禁要问，默比厄斯综合征患者是否可能携带HOXA1突变。我们的结果表明，HOXA1突变并非普通人群中散发性默比厄斯综合征的常见病因。
