智力残疾
听力损失
未能茁壮成长
感音神经性聋
身材矮小
上睑下垂
神经发育障碍
遗传学
睑裂
发育障碍
医学
生物
全球发育迟缓
心理学
表型
儿科
自闭症
发展心理学
听力学
眼科
基因
作者
Kumarie Latchman,Madison Calder,Dayna Morel,Lindsay Rhodes,Jane Juusola,Mustafa Tekin
摘要
Abstract ZMIZ1 , zinc finger MIZ‐domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating autosomal dominant inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1 ‐related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
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