Biallelic <scp> <i>KITLG</i> </scp> variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss-Reference-Cited by-同舟云学术

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Published:2022-05-25 Issue:9 Volume:36 Page:1606-1611
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Vona B.¹²^ORCID,Schwartzbaum D.A.³^ORCID,Rodriguez A.A.³^ORCID,Lewis S.S.⁴,Toosi M.B.⁵,Radhakrishnan P.⁶,Bozan N.⁷^ORCID,Akın R.⁷^ORCID,Doosti M.⁸,Manju R.⁹,Duman D.¹⁰^ORCID,Sineni C.J.³^ORCID,Nampoothiri S.¹¹^ORCID,Karimiani E.G.⁸¹²¹³,Houlden H.¹⁴^ORCID,Bademci G.³¹⁵^ORCID,Tekin M.³¹⁵^ORCID,Girisha K.M.⁴⁶^ORCID,Maroofian R.¹⁴^ORCID,Douzgou S.¹⁶¹⁷^ORCID

Affiliation:

1. Institute of Human Genetics University Medical Center Göttingen Göttingen Germany

2. Institute for Auditory Neuroscience and InnerEarLab University Medical Center Göttingen Göttingen Germany

3. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL USA

4. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal India

5. Department of Pediatrics, School of Medicine Mashhad University of Medical Sciences Mashhad Iran

6. Suma Genomics Private Limited and Manipal Center for Biotherapeutics Research Manipal Academy of Higher Education Manipal India

7. Department of Otolaryngology Yuzuncu Yıl University Faculty of Medicine Van Turkey

8. Department of Medical Genetics Next Generation Genetic Polyclinic Mashhad Iran

9. Renai Medicity Cochin Kerala India

10. Department of Audiology Ankara University Faculty of Health Sciences Ankara Turkey

11. Department of Paediatric Genetics Amrita Institute of Medical Sciences and Research Centre Kochi India

12. Molecular and Clinical Sciences Institute, St. George's University of London London UK

13. Innovative medical research center, Mashhad branch Islamic Azad University Mashhad Iran

14. Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London UK

15. Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami FL USA

16. Department of Medical Genetics Haukeland University Hospital Bergen Norway

17. Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester Manchester UK

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18207

Reference18 articles.

1. The SCF/KIT Pathway Plays a Critical Role in the Control of Normal Human Melanocyte Homeostasis

2. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

3. Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation

4. Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1‐pter in a Chinese family;Zhang C;Eur J Dermatol,2006

5. KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

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1. A novel KITLG mutation causes familial progressive hyperpigmentation and hypopigmentation with multiple café-au-lait macules;Indian Journal of Dermatology, Venereology and Leprology;2024-07-01

2. Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration;Orphanet Journal of Rare Diseases;2024-06-06

3. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants;Audiology Research;2023-12-21

4. Genetically modified pigs: Emerging animal models for hereditary hearing loss;Zoological Research;2023