The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement (Record no. 27990)
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| 000 -LEADER | |
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| fixed length control field | 03050nam a22004577a 4500 |
| 001 - CONTROL NUMBER | |
| control field | 20240607194922.0 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | 20240607194922.0 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20240607195801.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 240607b |||||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | EISSN 2073-4425 |
| 040 ## - CATALOGING SOURCE | |
| Transcribing agency | ddc |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | English |
| 100 ## - MAIN ENTRY--PERSONAL NAME | |
| Fuller form of name | Andrea Pietrobattista |
| 245 ## - TITLE STATEMENT | |
| Title | The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement |
| Remainder of title | Patient Report and Literature Review |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Place of publication, distribution, etc. | Mwanza, Tanzania : |
| Name of publisher, distributor, etc. | Catholic University of Health and Allied Sciences [CUHAS-Bugando] : |
| Date of publication, distribution, etc. | 2023 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | Pages 01-09 |
| Extent | Includes References |
| 490 ## - SERIES STATEMENT | |
| Volume/sequential designation | Genes 2023, 14, 739. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Abstract : <br/><br/>Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome, an intellectual disability syndrome first described in 2016, is caused by heterozygous loss-of-function variants in SON. Haploinsufficiency in SON may affect multiple genes, including those involved in the development and metabolism of multiple organs. Considering the broad spectrum of SON functions, it is to be expected that pathogenic variants in this gene can cause a wide spectrum of clinical symptoms. We present an additional ZTTK syndrome case due to a de novo heterozygous variant in the SON gene (c.5751_5754delAGTT). The clinical manifestations of our patient were similar to those present in previously reported cases; however, the diagnosis of ZTTK syndrome was delayed for a long time and was carried out during the diagnostic work-up of significant chronic liver disease (CLD). CLD has not yet been reported in any series; therefore, our report provides new information on this rare condition and suggests the expansion of the ZTTK syndrome phenotype, including possible liver involvement. Correspondingly, we recommend screening patients with SON variants specifically for liver involvement from the first years of life. Once the CLD has been diagnosed, an appropriate follow-up is mandatory, especially considering the role of SON as an emerging player in cancer development. Further studies are needed to investigate the role of SON haploinsufficiency as a downregulator of essential genes, thus potentially impairing the normal development and/or functions of multiple organs. |
| 600 ## - SUBJECT ADDED ENTRY--PERSONAL NAME | |
| General subdivision | chronic liver disease |
| General subdivision | ZTTK syndrome |
| General subdivision | SON mutation |
| General subdivision | brain malformations |
| General subdivision | developmental delay |
| 700 ## - ADDED ENTRY--PERSONAL NAME | |
| Fuller form of name | Luca Della Volpe |
| Fuller form of name | Paola Francalanci |
| Fuller form of name | Lorenzo Figà Talamanca |
| Fuller form of name | Lidia Monti |
| Fuller form of name | Francesca Romana Lepri |
| Fuller form of name | Maria Sole Basso |
| Fuller form of name | Daniela Liccardo |
| Fuller form of name | Claudia Della Corte |
| Fuller form of name | Antonella Mosca |
| Fuller form of name | Tommaso Alterio |
| Fuller form of name | Silvio Veraldi |
| Fuller form of name | Francesco Callea |
| Fuller form of name | Antonio Novelli |
| Fuller form of name | Giuseppe Maggiore |
| 856 ## - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.3390/genes14030739">https://doi.org/10.3390/genes14030739</a> |
| Link text | https://doi.org/10.3390/genes14030739 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Source of classification or shelving scheme | ddc |
| Koha item type | RESEARCH ARTICLES |
| Suppress in OPAC | |
| Withdrawn status | Lost status | Source of classification or shelving scheme | Damaged status | Not for loan | Home library | Current library | Date acquired | Total checkouts | Barcode | Date last seen | Price effective from | Koha item type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO | MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO | 06/07/2024 | 20240607194922.0 | 06/07/2024 | 06/07/2024 | RESEARCH ARTICLES |