Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS. Next-generation sequencing revealed variants in the TTC8 gene: c.-1...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2024-09-01
|
| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Case-report-of-twins-with-Bardet-Biedl-syndrome-exhibiting-a-rare-mutation-in-the-TTC8-gene,127,54958,1,1.html |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832584847960309760 |
|---|---|
| author | Agnieszka Murawska Kamil Możdżeń Grzegorz Horosin Edward Pędziwiatr Joanna Makowska Jakub Pośpiech Konrad Kaleta Dorota Drożdż Katarzyna Zachwieja |
| author_facet | Agnieszka Murawska Kamil Możdżeń Grzegorz Horosin Edward Pędziwiatr Joanna Makowska Jakub Pośpiech Konrad Kaleta Dorota Drożdż Katarzyna Zachwieja |
| author_sort | Agnieszka Murawska |
| collection | DOAJ |
| description | Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS. Next-generation sequencing revealed variants in the TTC8 gene: c.-104G>A [NM_001288783, rs119103286] and c.635T>C [NM_144596], which are associated with BBS type 8. The variant found in the patients’ mother was c.-104G>A, and in the patients’ father was c.635T>C, but they did not exhibit any BBS symptoms. Both twins presented several symptoms characteristic of BBS, such as retinopathy, visceral obesity, postaxial polydactyly, renal dysfunction, cognitive impairment, facial dysmorphia, and dental abnormalities. Table 1 compares BBS to other diseases, to facilitate differential diagnosis. Table 2 shows the symptoms of BBS and their frequency of occurrence and Table 3 compares cases of BBS with TTC8 mutation found in the literature. |
| format | Article |
| id | doaj-art-2a94d7b1ff1b484e880c9d2e24e47ed3 |
| institution | Kabale University |
| issn | 0031-3939 2300-8660 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj-art-2a94d7b1ff1b484e880c9d2e24e47ed32025-01-27T10:39:51ZengTermedia Publishing HousePediatria Polska0031-39392300-86602024-09-0199437838410.5114/polp.2024.14388554958Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 geneAgnieszka MurawskaKamil MożdżeńGrzegorz HorosinEdward PędziwiatrJoanna MakowskaJakub PośpiechKonrad KaletaDorota DrożdżKatarzyna ZachwiejaBardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS. Next-generation sequencing revealed variants in the TTC8 gene: c.-104G>A [NM_001288783, rs119103286] and c.635T>C [NM_144596], which are associated with BBS type 8. The variant found in the patients’ mother was c.-104G>A, and in the patients’ father was c.635T>C, but they did not exhibit any BBS symptoms. Both twins presented several symptoms characteristic of BBS, such as retinopathy, visceral obesity, postaxial polydactyly, renal dysfunction, cognitive impairment, facial dysmorphia, and dental abnormalities. Table 1 compares BBS to other diseases, to facilitate differential diagnosis. Table 2 shows the symptoms of BBS and their frequency of occurrence and Table 3 compares cases of BBS with TTC8 mutation found in the literature.https://www.termedia.pl/Case-report-of-twins-with-Bardet-Biedl-syndrome-exhibiting-a-rare-mutation-in-the-TTC8-gene,127,54958,1,1.htmlcase report mutation ciliopathy bardet-biedl syndrome ttc8 |
| spellingShingle | Agnieszka Murawska Kamil Możdżeń Grzegorz Horosin Edward Pędziwiatr Joanna Makowska Jakub Pośpiech Konrad Kaleta Dorota Drożdż Katarzyna Zachwieja Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene Pediatria Polska case report mutation ciliopathy bardet-biedl syndrome ttc8 |
| title | Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene |
| title_full | Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene |
| title_fullStr | Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene |
| title_full_unstemmed | Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene |
| title_short | Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene |
| title_sort | case report of twins with bardet biedl syndrome exhibiting a rare mutation in the ttc8 gene |
| topic | case report mutation ciliopathy bardet-biedl syndrome ttc8 |
| url | https://www.termedia.pl/Case-report-of-twins-with-Bardet-Biedl-syndrome-exhibiting-a-rare-mutation-in-the-TTC8-gene,127,54958,1,1.html |
| work_keys_str_mv | AT agnieszkamurawska casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT kamilmozdzen casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT grzegorzhorosin casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT edwardpedziwiatr casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT joannamakowska casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT jakubpospiech casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT konradkaleta casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT dorotadrozdz casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene AT katarzynazachwieja casereportoftwinswithbardetbiedlsyndromeexhibitingararemutationinthettc8gene |