Genome sequencing reveals novel <i>IKBKG</i> structural variants associated with incontinentia pigmenti
Using genome sequencing, we identified novel structural variants in the IKBKG gene in two patients affected by incontinentia pigmenti (IP). As a large proportion of patients with IP do not have a molecular diagnosis, and new variants remain to be identified. Emerging technologies, such as long-read sequencing, hold promise for further advancing the molecular diagnosis of IP.
Authors
- Edwin J. Young (ORCID: https://orcid.org/0000-0003-4882-6752)
- Neta Pipko
- Roberto Mendoza‐Londono (ORCID: https://orcid.org/0000-0003-3542-8106)
- Aiyana Kaplan
- Andrea Shugar (ORCID: https://orcid.org/0000-0002-5238-921X)
- Gregory Costain (ORCID: https://orcid.org/0000-0003-0099-9945)
- Grace Yoon (ORCID: https://orcid.org/0000-0002-3450-3293)
- Anna Szuto (ORCID: https://orcid.org/0000-0001-9140-6193)
- Christian R. Marshall (ORCID: https://orcid.org/0000-0002-4003-7671)
- Irene Lara‐Corrales (ORCID: https://orcid.org/0000-0002-3210-3413)
- Rachel Youjin Oh (ORCID: https://orcid.org/0000-0002-7516-7927)
- Miriam Weinstein (ORCID: https://orcid.org/0000-0002-7783-1019)
- Elena Pope (ORCID: https://orcid.org/0000-0002-2136-5661)
- Yiming Wang (ORCID: https://orcid.org/0000-0003-0513-9039)
Institutions
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- Genome Canada (CA)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2024-11-23
- DOI
- https://doi.org/10.1093/bjd/ljae462
- Citations
- 1
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.55