. Author manuscript; available in PMC: 2020 Jan 21.

Published in final edited form as: Eur J Med Genet. 2019 Feb 21;63(1):103635. doi: 10.1016/j.ejmg.2019.02.007

Table 2. Potential causative mutation.

Gene symbol	Nucleotide change	Protein change	Nucleotide accession	Location	Effect	Inheritance pattern
HUWE1	c.145-2A>G	p.(Cys49-Glu50del)	NM_031407.6	Intron 5	Disruption of the normal splice site led to use of a downstream splice acceptor site resulting in deletion of two amino acids in HUWE1 protein.	X-linked recessive