Barakat (HDR) syndrome is characterized by the triad of Hypoparathyroidism, sensorineural Deafness and Renal disease. In 2018 I published a paper entitled "Barakat AJ, Raygada M, Rennert OM. Barakat syndrome revisited. Am J Med Genet. 2018; 1- 8. DOI: 10.1002/ajmg.a.38693". A review of the literature then revealed 180 reported cases. More reports are appearing in the literature. I am interested to know if anyone has unreported case/s of the syndrome? Thank you
Amin J. Barakat, MD, FAAP
Dear Proffesor Barakat,
I am a clinical geneticist and two years ago I diagnosed a patient and her mother with Barakat (HDR) syndrome. We have identified 1 bp deletion GATA3 c.708_708delC.
Based on the family history two more family members might also be affected.
The family was not reported so far.
I will be happy to provide more details upon request.
Kind regards
Agnieszka Gach
Dear Dr. Gach
As I previously mentioned, I think you should report this family. Thanks so much for your kind response
Amin
Amin J. Barakat, MD
- Badges
- Science topic
- Similar topics
- Linguistics
- Composition Studies
- Publisher