ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

(The American Journal of Human Genetics 104, 319–330; February 7, 2019) In the version of Table S1 originally published online, subjects 13–15 were listed with different mutations but should have been listed with the same mutations. Subjects 18 and 19 are listed as having translocations in Table 1 but were incorrectly listed as having duplication mutations in Table S1. Table S1 has now been corrected online, and the authors apologize for the error. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderCarapito et al.The American Journal of Human GeneticsJanuary 10, 2019In BriefZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations. Of these 19, 14 unrelated subjects carried de novo heterozygous single-nucleotide variants (SNVs) or single-base insertions/deletions, 3 siblings harbored a heterozygous single-base insertion, and 2 subjects had a balanced translocation disrupting ZMIZ1 or involving a regulatory region of ZMIZ1. Full-Text PDF Open Archive