PMC8632055_01
Genetic testing and conservation of the TBC1D8B sequence in different species. (A) TBC1D8B protein structure and location of the child's p.His906Arg mutation, (B) amino acid sequence conservation in different species, and (C) trio whole-exome sequencing results, showing a hemizygous mutation, c.2717A>G (p.His906Arg), in the TBC1D8B gene of the child and the mother.
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F1
This potentially pathogenic variant was derived from the mother (who had no history of symptoms and no proteinuria) and the father's gene was normal (Figure 1). Pan troglodytes, Macaca mulatta, Canis lupus familiaris, Mus musculus, Rattus norvegicus, Gallus gallus, and Danio rerio (Figure 1). The minor allele frequency (MAF) of this site in the gnomAD database was 0.0005 (East Asia). Protein structure and function prediction software indicated the variant was probably damaging (Polyphen) or deleterious (SIFT).