A Novel MAF Variant Causing Aymé‐Gripp Syndrome With Transient Anemia

Aymé-Gripp syndrome (AGS, OMIM#601088) is an extremely rare congenital disorder characterized by intellectual disability, developmental delay, seizures, brachycephaly, distinctive facial features, short stature, congenital cataracts, and sensorineural hearing loss [1].The exact prevalence of AGS is still unknown, and 21 patients from 19 families have been reported in 2019 [2].It is associated with dominant variants in the N-terminal region of MAF (16q23.2) [3].Although most variants are de novo, one familial case has been reported [4].MAF encodes a bZIP family transcription factor involved in T-helper 2 (Th2) cell differentiation and is essential for processes such as lens fiber development, T-cell apoptosis, and chondrocyte differentiation [2].The contribution of Th2-related immune functions to the clinical phenotype of AGS has not been established.Here, we describe a Japanese boy with AGS due to a novel missense variant identified by whole-exome sequencing (WES).