Kaur Harsimran, Thom Robyn P, Neumeyer Ann M, Bilancia Colleen G, Wray Shirley H, McDougle Christopher J
Government Medical College, Medical Enclave, Amritsar, Punjab, India.
Massachusetts General Hospital.
Psychiatr Genet. 2020 Aug;30(4):119-123. doi: 10.1097/YPG.0000000000000256.
3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gastrointestinal disorders, dental abnormalities, feeding problems during infancy, recurrent ear infections, and heart defects have also been observed. Since the incidence of the deletion is rare, the phenotype has not been fully described, particularly in adults. This report describes a young adult female with 3q29 deletion syndrome, autism spectrum disorder, intellectual disability, and anxiety who experienced a sustained, non-medication induced paroxysmal oculogyric dystonia which responded to anticholinergic and antihistaminic medications. This is the first report of paroxysmal oculogyric dystonia associated with this deletion, possibly expanding the phenotypic features of this microdeletion syndrome.
3q29缺失综合征由3号染色体上一个1.6兆碱基对的杂合缺失引起，其发生率约为每30000例出生中有1例。该综合征的表型特征包括轻至中度智力残疾、自闭症谱系障碍、面部轻度畸形、共济失调步态和胸壁畸形。还观察到胃肠道疾病、牙齿异常、婴儿期喂养问题、反复耳部感染和心脏缺陷。由于该缺失的发生率很低，其表型尚未得到充分描述，尤其是在成年人中。本报告描述了一名患有3q29缺失综合征、自闭症谱系障碍、智力残疾和焦虑症的年轻成年女性，她经历了持续性、非药物诱导的阵发性动眼神经肌张力障碍，对抗胆碱能和抗组胺药物有反应。这是首次报告与该缺失相关的阵发性动眼神经肌张力障碍，可能会扩展这种微缺失综合征的表型特征。
