2 de novo heterozygous variants in SON gene are associate with
Zhu-Tokita-Takenouchi-Kim syndrome
Abstract
Zhu-Tokita-Takenouchi-Kim (ZTTK) is a rare disorder caused by
heterozygous variants of SON gene, which is an autosomal dominant
genetic disease, with only 32 cases and 25 causative variants in SON
have been reported to date since the first report in 2015. Herein, we
reported 2 additional sporadic cases with clinical features strikingly
similar to cases having been reported. Notably, through penetration of
left palm print and growth hormone deficiency in our Patient #1 has not
been mentioned in reported literature. Whole-exome sequencing revealed 2
novel variants, c.5297 delC (p.S1766Leufs*7) and c.5230 delC
(p.Arg1744Valfs*29) in SON resulting in ZTTK syndrome. Our report
expands the mutant spectrum of SON gene and refine the
genotype-phenotype map of ZTTK syndrome.