Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A

Andre Mattman^{1

2}, Raha Masoudi², Sylvia Stockler-Ipsiroglu^{3

4}, Irena Zivkovic⁵, Anna Lehman^{2

4

6}, Janis M Dionne^{4

7}

Affiliations

¹ Department of Pathology and Laboratory Medicine, St. Paul's Hospital, Vancouver, British Columbia, Canada.
² Adult Metabolic Disease Clinic, Vancouver General Hospital, Vancouver, British Columbia, Canada.
³ Division of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
⁴ BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
⁵ University of British Columbia School of Medicine, Vancouver, British Columbia, Canada.
⁶ Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
⁷ Division of Nephrology, BC Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.

Comment

Andre Mattman et al. Am J Med Genet A. 2022 Oct.

. 2022 Oct;188(10):3139-3141.

doi: 10.1002/ajmg.a.62927. Epub 2022 Jul 31.

Andre Mattman^{1

2}, Raha Masoudi², Sylvia Stockler-Ipsiroglu^{3

4}, Irena Zivkovic⁵, Anna Lehman^{2

4

6}, Janis M Dionne^{4

7}

¹ Department of Pathology and Laboratory Medicine, St. Paul's Hospital, Vancouver, British Columbia, Canada.
² Adult Metabolic Disease Clinic, Vancouver General Hospital, Vancouver, British Columbia, Canada.
³ Division of Biochemical Genetics, BC Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
⁴ BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
⁵ University of British Columbia School of Medicine, Vancouver, British Columbia, Canada.
⁶ Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
⁷ Division of Nephrology, BC Children's Hospital, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.

No abstract available

Comment on

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R. Sheppard SE, et al. Am J Med Genet A. 2021 Feb;185(2):566-570. doi: 10.1002/ajmg.a.61978. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33251707 Free PMC article.