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The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype
Author(s) -
Pascolini Giulia,
Agolini Emanuele,
Novelli Antonio,
Majore Silvia,
Grammatico Paola
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13682
Subject(s) - phenotype , genetics , genotype phenotype distinction , mutation , biology , genotype , gene
We describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin‐like 6A) (MIM#604958) and a phenotype reminiscent a disorder of the BRG1‐associated factor (BAF) complex, including dysmorphic facies and acral malformations. So far, only three patients with ACTL6A variants and neurodevelopmental delay have been reported but the specific p.Arg377Trp mutation seems to correlate with a distinctive phenotype well‐fitting a BAFopathy, which lacks in individuals carrying different mutations. This could suggest an emergent genotype‐phenotype correlation among the ACTL6A‐related phenotype.