P254: Genetics of Perrault syndrome in a family with ten affected individuals
Hearing loss and impaired fertility are each common disorders. Perrault syndrome is inherited as an autosomal recessive disorder characterized in 46,XX females by both bilateral mild to severe childhood sensorineural hearing loss and ovarian dysfunction. Some affected individuals have a neurological impairment, including epilepsy and a developmental delay, often associated with brain white matter changes. To date, recessive variants of CLPP, ERAL1, GGPS1, HARS2, HSD17B4, LARS2, PRORP, RMND1, and TWNK have been associated with Perrault syndrome.
Authors
- Rabia Faridi (ORCID: https://orcid.org/0000-0001-7788-8755)
- Alejandro A. Schäffer (ORCID: https://orcid.org/0000-0002-2147-8033)
- Mathilda Wilding (ORCID: https://orcid.org/0000-0001-6054-039X)
- Ronald T. Hay (ORCID: https://orcid.org/0000-0001-7113-9024)
- Robert J. Morell (ORCID: https://orcid.org/0000-0003-1537-7356)
- Thomas B. Friedman (ORCID: https://orcid.org/0000-0003-4614-6630)
- Glenda M. Beaman (ORCID: https://orcid.org/0000-0002-6098-9995)
- Thomas B. Smith (ORCID: https://orcid.org/0000-0003-2464-5674)
- Isabelle Schrauwen (ORCID: https://orcid.org/0000-0001-7310-6082)
- Sayaka Inagaki (ORCID: https://orcid.org/0000-0001-9064-0762)
- Zubair M. Ahmed (ORCID: https://orcid.org/0000-0003-2914-4502)
- Raymond T. O’Keefe (ORCID: https://orcid.org/0000-0001-8764-1289)
- A. Maqbool (ORCID: https://orcid.org/0009-0003-2867-5042)
- Leigh Demain (ORCID: https://orcid.org/0000-0001-8694-7710)
- Sheikh Amer Riazuddin (ORCID: https://orcid.org/0000-0001-6012-0192)
- Yasuko Ishibashi (ORCID: https://orcid.org/0000-0003-4273-8890)
- Inna A. Belyantseva (ORCID: https://orcid.org/0000-0001-5030-9784)
- Khurram Liaqat (ORCID: https://orcid.org/0000-0002-0792-5773)
- Huw B. Thomas (ORCID: https://orcid.org/0000-0001-9626-9706)
- William G. Newman (ORCID: https://orcid.org/0000-0002-6382-4678)
- Ruth Sheffer (ORCID: https://orcid.org/0000-0002-3623-8016)
- Saima Riazuddin (ORCID: https://orcid.org/0000-0002-8645-4761)
- Suzanne M. Leal (ORCID: https://orcid.org/0000-0003-1231-8174)
- Hagar Mor‐Shaked (ORCID: https://orcid.org/0000-0001-6631-0376)
- Alessandro Rea (ORCID: https://orcid.org/0000-0002-6204-846X)
- Andrew Green (ORCID: https://orcid.org/0000-0003-4599-2915)
- Robert W. Taylor
- Wasim Ahmed
- Sondhya Ghedia
- Langping He
Institutions
- Quaid-i-Azam University (PK)
- University of Maryland, Baltimore (US)
- National Institutes of Health (US)
- University of Arizona (US)
- Allama Iqbal Medical College (PK)
- Columbia University Irving Medical Center (US)
- Hadassah Medical Center (IL)
- Royal North Shore Hospital (AU)
- University of Manchester (GB)
- Children's Health Ireland at Crumlin (IE)
- St Mary's Hospital (GB)
- Manchester University NHS Foundation Trust (GB)
- St Mary's Hospital (GB)
- Wellcome Centre for Mitochondrial Research (GB)
- National Cancer Institute (US)
- Center for Cancer Research (US)
- Genomics (United Kingdom) (GB)
- National Institute on Deafness and Other Communication Disorders (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102219
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00