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Autosomal dominant inheritance in a recently described ZMIZ1‐ related neurodevelopmental disorder: Case report of siblings and an affected parent
Author(s) -
Latchman Kumarie,
Calder Madison,
Morel Dayna,
Rhodes Lindsay,
Juusola Jane,
Tekin Mustafa
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61446
Subject(s) - intellectual disability , hearing loss , failure to thrive , sensorineural hearing loss , neurodevelopmental disorder , ptosis , short stature , phenotype , global developmental delay , medicine , genetics , psychology , pediatrics , autism , developmental psychology , audiology , biology , gene , ophthalmology
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.