TürkiyeResearch and clinical trials
New gene findings in 13 patients with Kabuki syndrome from Türkiye
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Genetics teams in Ankara and Trabzon studied patients with Kabuki syndrome. All thirteen patients had a change in the KMT2D gene. Three of these were described for the first time. Heart and eye findings were seen in 11 patients, and kidney findings in 7. Six patients had hearing loss.
What does it mean for patients and families?
The syndrome can affect many organs. That is why heart, eye, kidney, and ear checkups are important. Discuss the follow-up plan with your doctor.
Source
Scientific paper: Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants. European Journal of Medical Genetics, 2025. DOI: 10.1016/j.ejmg.2025.105052 · PubMed 41061959
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Kabuki syndrome
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.