en ENGLISH
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Bieżący numer Archiwum Artykuły zaakceptowane O czasopiśmie Rada naukowa Bazy indeksacyjne Kontakt Zasady publikacji prac Standardy etyczne i procedury
Panel Redakcyjny
Zgłaszanie i recenzowanie prac online
SCImago Journal & Country Rank
Wyszukiwanie
Zasady redakcyjne
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

Poleć ten artykuł:
Wyślij znajomemu
Udostępnij:
streszczenie artykułu:
Opis przypadku

Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene

Agnieszka Murawska
1
,
Kamil Możdżeń
1
,
Grzegorz Horosin
1
,
Edward Pędziwiatr
1
,
Joanna Makowska
1
,
Jakub Pośpiech
1
,
Konrad Kaleta
1
,
Dorota Drożdż
2
,
Katarzyna Zachwieja
2

  1. Students Scientific Group of Clinical Genetics, Jagiellonian University Collegium Medicum, Kraków, Poland
  2. Department of Paediatric Nephrology and Hypertension, Jagiellonian University Collegium Medicum, Kraków, Poland
Pediatr Pol 2024; 99 (4)
DOI: https://doi.org/10.5114/polp.2024.143885
Data publikacji online: 2024/09/30
Pełna treść artykułu Pobierz cytowanie
 
Metryki PlumX:


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.