52岁女性zmiz1相关神经发育障碍

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2025-10-03 DOI:10.1002/ajmg.a.64243

Sila Rogan, Anthony Gador, Evelyn Carroll, Jan M Friedman

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引用次数: 0

摘要

ZMIZ1的变异可引起综合征性神经发育障碍，伴有畸形相和远端骨骼异常。在这里，我们报告了一位患有ZMIZ1 c.899C>T （p.s thr300met）变异、平均智商低、高度近视、颅面畸形、泌尿生殖系统异常、心脏缺陷、下肢畸形和慢性疼痛的女性。她在52岁时意外去世。尸检的其他发现包括大脑皮质神经元异位。我们的报告表明，患有zmiz1相关神经发育障碍的个体可以过上长寿、活跃和充实的生活。

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ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

Variants in ZMIZ1 can cause a syndromic neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies. Here we report a woman with a de novo ZMIZ1 c.899C>T (p.Thr300Met) variant, low average IQ, high myopia, craniofacial dysmorphisms, genitourinary anomalies, cardiac defects, lower limb deformities, and chronic pain. She died unexpectedly at 52 years of age. Additional findings seen on autopsy included cerebral cortical neuronal heterotopias. Our report illustrates that individuals with ZMIZ1-associated neurodevelopmental disorder can lead long, active, and fulfilling lives.

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .