Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
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DOI：
10.1002/ajmg.a.37537
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发表时间：
2016-04
期刊：
影响因子：
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通讯作者：
Unique Rare Chromosome Disorder Support Group
中科院分区：
文献类型：
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作者：
Glassford MR;Rosenfeld JA;Freedman AA;Zwick ME;Mulle JG;Unique Rare Chromosome Disorder Support Group
3q 29缺失综合征是由一个复发性的，典型的从头杂合1.6 Mb缺失引起的，但由于缺失的发生率很罕见（1/30，000出生），表型没有得到很好的描述。为了表征与3q 29缺失综合征相关的表型表现的范围，我们开发了一个在线注册表（3q29deletion.org），用于通过基于互联网的调查工具确定研究受试者和表型数据收集。我们在这里报告的数据收集在注册操作的前18个月，从44例患者。这是有史以来最大的3q 29缺失携带者队列，并以系统的方式进行了调查。我们的数据显示，28%的登记参与者报告了神经精神表型，包括焦虑症、惊恐发作、抑郁症、双相情感障碍和精神分裂症。其他新发现包括婴儿期喂养问题的高患病率（64%）和3q 29缺失携带者出生时体重减轻（平均减少13.9盎司（394 g），经胎龄和性别调整，P = 6.5e-07）。我们进一步报告了心脏缺陷、自闭症、复发性耳部感染、胃肠道表型和牙齿表型等的频率。我们还报告了延迟发育里程碑的预期时间。这是迄今为止对3q 29缺失表型最全面的描述。这些结果对于改善3q 29缺失携带者的患者护理具有临床可操作性，并且可以指导医生和父母的期望。这些数据还证明了患者报告的结果在揭示罕见基因组疾病的完整表型谱方面的价值。版权所有2016作者.美国医学遗传学杂志A部分由Wiley期刊公司出版。
3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet‐based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394 g), adjusted for gestational age and sex, P = 6.5e‐07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient‐reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.