A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome
Abstract 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...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-11-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Online Access: | https://doi.org/10.1002/mgg3.1496 |
| _version_ | 1797300979025051648 |
|---|---|
| author | Lianlian Yang Fan Yang |
| author_facet | Lianlian Yang Fan Yang |
| author_sort | Lianlian Yang |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-07T23:15:45Z |
| format | Article |
| id | doaj.art-2a8a8bdafc134c819f1b9a536983a702 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:15:45Z |
| publishDate | 2020-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-2a8a8bdafc134c819f1b9a536983a7022024-02-21T11:47:10ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-11-01811n/an/a10.1002/mgg3.1496A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndromeLianlian Yang0Fan Yang1Department of Child Health West China Second University Hospital Sichuan University Chengdu ChinaDepartment of Child Health West China Second University Hospital Sichuan University Chengdu ChinaAbstract 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.https://doi.org/10.1002/mgg3.1496 |
| spellingShingle | Lianlian Yang Fan Yang A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome Molecular Genetics & Genomic Medicine |
| title | A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome |
| title_full | A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome |
| title_fullStr | A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome |
| title_full_unstemmed | A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome |
| title_short | A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome |
| title_sort | de novo heterozygous variant in the son gene is associated with zhu tokita takenouchi kim syndrome |
| url | https://doi.org/10.1002/mgg3.1496 |
| work_keys_str_mv | AT lianlianyang adenovoheterozygousvariantinthesongeneisassociatedwithzhutokitatakenouchikimsyndrome AT fanyang adenovoheterozygousvariantinthesongeneisassociatedwithzhutokitatakenouchikimsyndrome AT lianlianyang denovoheterozygousvariantinthesongeneisassociatedwithzhutokitatakenouchikimsyndrome AT fanyang denovoheterozygousvariantinthesongeneisassociatedwithzhutokitatakenouchikimsyndrome |