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NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent
Author(s) -
Langley Elizabeth,
Farach Laura S.,
Koenig Mary K.,
Northrup Hope,
RodriguezBuritica David F.,
Mowrey Kate
Publication year - 2022
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.62686
Subject(s) - vietnamese , descent (aeronautics) , genetics , genetic variants , biology , geography , genotype , gene , linguistics , philosophy , meteorology
NEXMIF pathogenic variants have been known to produce a wide spectrum of X‐linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF‐related disorders. Herein, we report three individuals with NEXMIF pathogenic variants, the first two are the only males of Korean and Vietnamese descent described with this disorder to our knowledge. The last patient is a Hispanic female who harbors the same pathogenic variant as a previously described Caucasian individual, but with differing clinical presentation. These patients present with many classic symptoms of NEXMIF‐related disorders including ID, epilepsy, developmental delay, and dysmorphic features. In addition, they have symptoms that have not been thoroughly described in the literature, including allergies with multiple anaphylactic events and hypothyroidism. This report is intended to raise awareness and educate about the clinical signs that may prompt testing for NEXMIF‐related disorders.