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Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family

Crossref DOI link: https://doi.org/10.1007/s10048-025-00838-3

Published Online: 2025-08-11

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

Authors

Khan, Hayat

Ilyas, Muhammad

Qasim, Hina

Zeb, Humaira

Israr, Muhammad

Iqbal, Amjad

Ullah, Ahmad

Ullah, Atta

Dominik, Natalia

Houlden, Henry

Efthymiou, Stephanie

Tariq, Muhammad
Funding

Funding for this research was provided by:

Higher Education Commision, Pakistan (NRPU-17341, NRPU-17341)

SYNaPS Study Group collaboration funded by The Wellcome Trust and strategic award (WT093205 MA and WT104033AIA)
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Article History

Received: 21 May 2025

Accepted: 11 July 2025

First Online: 11 August 2025

Declarations

:

: Institutional Bioethical Committee (IBC) of Islamia College University Peshawar (Ref. No. 602/ORIC/ICP).

: Informed written consent for publication of medical data and images was obtained from the legal guardian of family.

: The authors declare that they have no competing interests.

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