Whole-exome sequencing in Tricho-rhino-phalangeal syndrome (TRPS) type I in a Korean family
Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant and monogenic disease. Among three types of TRPS, it is known that TRPS type I and type III are caused by deletions or substitutions in the TRPS1 gene, located on chromosome 8 (8q23.3). Although the mutations in TRPS1 gene are responsible for human TRPS, some cases are not detected by the mutations of TRPS1 gene and several cases are presented with different genetic variations. The present case was a sporadic and without TRPS1 mutation. Therefore, we performed whole-exome sequencing (WES) with one patient and his family (father, mother, and brother) and validated novel mutations using PCR and Sanger sequencing. Through family-based WES, we found the two de novo mutations such as ZNF 134 and EXD 3 genes. Through functional effect prediction using disease association Ensembl database, we propose that the de novo mutation of ZNF134 (p.Ser207Arg) could be one of potential candidate genes for causing TRPS and develope the TRPS phenotype in the present case.
KeywordsTRPS1 Next generation sequencing Whole-exome sequencing ZNF134 EXD3 Tricho-rhino-phalangeal syndrome
Exonuclease 3′–5′ domain containing 3
Zinc finger protein 134
This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (NRF- 2015R1D1A1A02059462).
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Conflict of interest
Byulee Yoon declares that she has no conflict of interest. Yun-Ji Kim declares that she has no conflict of interest. Seung-Yeol Son declares that he has no conflict of interest. Kyudong Han declares that he has no conflict of interest. Byung Cheol Park declares that he has no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
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