Opis

• Tytuł:
  A new mutation for Cantu's syndrome
• Twórca:
  Bargieł, Julia;
  Cabaj, Justyna;
  Tarkowska, Agata
• Opis:
  Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a conventional clinical picture that may suggest a diagnosis with high probability. This publication presents a case study of a two-week-old female patient who was qualified for genetic testing on the basis of her characteristic clinical picture. Whole exome sequencing revealed the presence of a mutation so far unknown in the human mutation database... Case report: A two-week-old patient was referred to the Neonatal Pathology Unit due to the features of the dysmorphic syndrome in order to extend the diagnosis. Biased family history: the child's mother was diagnosed with hypogonadotrophic hypogonadism with suspected Kallman syndrome. The girl is very similar to her mother - in the physical examination, the following highlights: features of facial dysmorphia, a large, protruding tongue, excessive hair in the head and lumbar region. Due to the possibility of mutations in various genes correlating with Kallmann syndrome, a Whole Exome Sequencing (WES) study was commissioned. The study revealed the detection of a new Arg1116Pro mutation in the ABCC9 allele. Conclusions: In the presence of dimorphic features significant for Cantu syndrome, it is advisable to perform molecular genetic tests involving the use of a multigene panel. In the case of an uncertain clinical picture, it is worth performing Whole Exome Sequencing. Cantu's syndrome is still a little-known disease that is often associated with the coexistence of many serious multi-system diseases. Therefore, it is crucial to make the diagnosis as early as possible in the patient's life so that the patient is immediately provided with multidisciplinary medical care.
• Dostępność obiektu:
  Dostęp otwarty
• Prawa:
  Prawa autorskie (c) 2022 Julia Bargieł, Justyna Cabaj, Agata Tarkowska;
  http://creativecommons.org/licenses/by-nc-sa/4.0
• Data:
  2022.06.17
• Typ:
  info:eu-repo/semantics/article;
  info:eu-repo/semantics/publishedVersion
• Język:
  angielski
• Źródło:
  Journal of Education, Health and Sport; Vol. 12 No. 6 (2022); 177-183;
  Journal of Education, Health and Sport; Tom 12 Nr 6 (2022); 177-183;
  2391-8306
• Format:
  application/pdf
• Wydawca:
  Nicolaus Copernicus University, Toruń, Poland
• Relacja: https://apcz.umk.pl/JEHS/article/view/38760/32522
• Temat i słowa kluczowe:
  pediatry;
  Cantu;
  genetic
• Identyfikator: https://apcz.umk.pl/JEHS/article/view/38760
• Dostawca danych:
  Akademicka Platforma Czasopism
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