Homozygous <scp> <i>LZTR1</i> </scp> Variant Lacking the Second <scp>BTB</scp> Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome
A homozygous LZTR1 frameshift variant resulting from maternal uniparental disomy of chromosome 22 [UPD(22)] is associated with bone marrow failure and dysmorphic features distinct from those of Noonan syndrome. Biallelic LZTR1 variants lacking the second BTB domain may underlie a rare clinical phenotype characterized by bone marrow failure.
Authors
- Tomoko Yokosuka (ORCID: https://orcid.org/0000-0001-6549-2999)
- Kenji Kurosawa (ORCID: https://orcid.org/0000-0002-6817-7748)
- Takuya Naruto (ORCID: https://orcid.org/0000-0002-5590-8126)
- Yasuhiro Kawai
- Koki Nagai (ORCID: https://orcid.org/0000-0001-9083-6714)
- Yukiko Kuroda (ORCID: https://orcid.org/0000-0001-8420-6070)
Institutions
- Kanagawa Children's Medical Center (JP)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-11-06
- DOI
- https://doi.org/10.1111/cge.70104
- Primary Topic
- Protein Tyrosine Phosphatases
- Type
- article
- Field-Weighted Citation Impact
- 0.00