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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

Crossref DOI link: https://doi.org/10.1007/s00439-021-02380-2

Published Online: 2021-10-13

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Ullah, Farid

Rauf, Waqar

Khan, Kamal

Khan, Sheraz

Bell, Katrina M.

de Oliveira, Vanessa Cristina

Tariq, Muhammad

Bakhshalizadeh, Shabnam

Touraine, Philippe

Katsanis, Nicholas

Sinclair, Andrew

He, Sijie

Tucker, Elena J.

Baig, Shahid M.

Davis, Erica E. https://orcid.org/0000-0002-2412-8397
Funding

Funding for this research was provided by:

National Health and Medical Research Council (1074258)

National Health and Medical Research Council (1054432)

National Health and Medical Research Council (1062854)

National Institute of Child Health and Human Development (P50-HD028138)

Australian Mitochondrial Disease Foundation

Higher Education Commision, Pakistan
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Text and Data Mining valid from 2021-10-13

Version of Record valid from 2021-10-13
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Article History

Received: 26 April 2021

Accepted: 30 September 2021

First Online: 13 October 2021

Declarations

:

: NK is a significant shareholder in Rescindo Therapeutics.

: Human subjects research was approved by the National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan, and Lurie Children’s’ Hospital of Chicago, IL, USA. All zebrafish experiments were approved by institutional animal care and use committees (IACUC) of Duke University and Northwestern University.

: Written informed consent was obtained from all willing research participants.

: Written informed consent was obtained from all willing research participants for publication.

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