家族中 ZNF711 改变的临床发现和 DNA 甲基化特征。
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
机构信息
Greenwood Genetic Center, Greenwood, SC, USA.
Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
出版信息
Eur J Hum Genet. 2022 Apr;30(4):420-427. doi: 10.1038/s41431-021-01018-1. Epub 2022 Jan 7.
Abstract
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.
摘要
ZNF711 是 11 个位于 X 染色体上的锌指基因之一，与 X 连锁智力障碍有关。这一关联在 20 例新病例和之前报道的 11 例病例的临床发现中得到了证实。在 ZNF711 改变的患者中没有发现与生长异常、颅面畸形、畸形或神经学发现一致的情况。智力障碍通常为轻度，一半的病例伴有自闭症。携带者女性没有表现。已经确定了 ZNF711 特异性的甲基化特征，可以辅助识别新病例，并证实该基因变异的致病性。
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