Open AccessA de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome
Author(s) -
Yang Lianlian,
Yang Fan
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1496
Subject(s) - exome sequencing , genetics , phenotype , gene , compound heterozygosity , mutation , exome , medicine , biology , bioinformatics
Background Zhu‐Tokita‐Takenouchi‐Kim (ZTTK, OMIM# 617140) syndrome is a rare, autosomal dominant genetic disorder caused by heterozygous variants in the SON gene (OMIM#182465, GenBank#NC_000021.9). There are only 33 cases and 26 causative SON variants reported to date since the first report in 2015. Here, we report a new case of ZTTK syndrome and a de novo disease‐causing SON variant. Methods We conducted whole‐exome sequencing (WES) to obtain genetic data of the patient. The clinical and genetic data of the patient were analyzed. Results The clinical features of our patient were strikingly similar to previously reported cases. Notably, our patient had unique presentations, including a bridged palmar crease in the left hand and growth hormone deficiency. The c.5297del de novo variant in SON causes an amino change (p.Ser1766Leufs*7). Conclusion Our report expands the mutant spectrum of the SON gene and refines the genotype‐phenotype map of ZTTK syndrome. Our findings also highlighted the importance of WES for early diagnosis of ZTTK syndrome, which may improve diagnostic procedures for affected individuals.