NEXMIF Pathogenic Variants in Individuals of Korean, Vietnamese, and Mexican Descent

Authors

Elizabeth Langley
Laura S Farach
Mary K Koenig
Hope Northrup
David F Rodriguez-Buritica
Kate Mowrey

Publication Date

6-1-2022

Journal

American Journal of Medical Genetics

Abstract

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.

Keywords

Asian People, Female, Genes, X-Linked, Humans, Intellectual Disability, Male, Nerve Tissue Proteins, Republic of Korea

Comments

PMID: 35146903