Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature
Our case expands the phenotypic and genetic spectrum of SOPH syndrome. Similarly to many other syndromic conditions, SOPH can display variable expressivity of disease features. Furthermore, our patient's complete deletion of one copy of the NBAS gene provides a unique opportunity to investigate in isolation the effects of the NBAS splice site variant found on the other allele.
Authors
- Emily H. Jung (ORCID: https://orcid.org/0000-0001-8496-7806)
- Michael X. Zhu (ORCID: https://orcid.org/0000-0002-5676-841X)
- Anna Duemler (ORCID: https://orcid.org/0000-0002-5454-5079)
- Eric D. Carlsen (ORCID: https://orcid.org/0000-0001-6853-1017)
- Alessandro Iannaccone (ORCID: https://orcid.org/0000-0001-5737-8424)
- Oleg Alekseev (ORCID: https://orcid.org/0000-0002-1179-194X)
Institutions
- Duke University (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-12-03
- DOI
- https://doi.org/10.1080/13816810.2025.2592109
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00