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Published on: August 20, 2019
The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral
Cha Gon Lee1, Chang Ahn Seol2,3, Chang-Seok Ki2
1Department of Pediatrics, Nowon Eulji Medical Center, Eulji University, Seoul, Republic of Korea.
Abstract:
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) caused by germline de novo variants in FBXO11 was recently recognized as a novel intellectual disability (ID) syndrome through reverse phenotyping after whole-exome sequencing (WES). Fewer than 50 disease-causing de novo FBXO11 variants in IDDFBA are reported thus far. Here, we present the first report of a family showing autosomal dominantly inherited IDDFBA, harboring a novel heterozygous variant in FBXO11 (c.2401_2405dup;p. Gly803Leufs*6) identified by WES. In this family, the mother and two daughters showed mild ID and mild facial dysmorphism. This finding is expected to increase our understanding of the genotype-phenotype of IDDFBA and to facilitate genetic counseling for the disorder caused by FBXO11.
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