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Chu et al. Rare Dis Orphan Drugs J 2023;2:2 https://dx.doi.org/10.20517/rdodj.2022.25 Page 9 of 10

symptoms or strong family history of similar presentation, will benefit from early referral to clinical
geneticists, and could possibly avoid prolonged diagnostic odyssey and allow early initiation of disease-
altering treatment. Of course, for a more comprehensive comparison regarding phenotype and disease
progression in patients with or without timely referral, we definitely need more future work utilizing a
larger cohort covering patients diagnosed of different ages with longer clinical follow-ups. The adult patient
found closure when the research team disclosed her WGS result and she said, “I could not believe you guys
really did confirm an answer for me!”.

DECLARATIONS
Acknowledgments
The authors would like to express their greatest appreciation and gratitude to the patients and their family
members for their selfless sharing and permission given to us to publish this important case report.

Authors’ contributions
Conception and design: Chung BHY, Chu ATW
Drafting the article: Chu ATW, Chan JCK, Fung JLF
Data analysis and interpretation: Fung JLF, Tang W, Lee M
Critical revision: Chung BHY, Chu ATW
Final approval of the version to be published: Chung BHY, Chu ATW, Chan JCK, Fung JLF, Tang W, Lee
M, Chung MH, Yu G, Li V, Ng CTH
Patient recruitment and data collection: Hong Kong Genome Project

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Written informed consent for publication from all patients was obtained.

Copyright
© The Author(s) 2023.

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