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Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
- Source :
- British Journal of Haematology; Jan2023, Vol. 200 Issue 2, p222-228, 7p
- Publication Year :
- 2023
-
Abstract
- Summary: Germline mutations in tubulin beta class I (TUBB), which encodes one of the β‐tubulin isoforms, were previously associated with neurological and cutaneous abnormalities. Here, we describe the first case of inherited bone marrow (BM) failure, including marked thrombocytopenia, morphological abnormalities, and cortical dysplasia, associated with a de novo p.D249V variant in TUBB. Mutant TUBB had abnormal cellular localisation in transfected cells. Following interferon/ribavirin therapy administered for transfusion‐acquired hepatitis C, severe pancytopenia and BM aplasia ensued, which was unresponsive to immunosuppression. Acquired chromosome arm 6p loss of heterozygosity was identified, leading to somatic loss of the mutant TUBB allele. [ABSTRACT FROM AUTHOR]
- Subjects :
- BONE marrow
TUBULINS
THROMBOCYTOPENIA
GERM cells
RIBAVIRIN
HEPATITIS C
PANCYTOPENIA
Subjects
Details
- Language :
- English
- ISSN :
- 00071048
- Volume :
- 200
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- British Journal of Haematology
- Publication Type :
- Academic Journal
- Accession number :
- 161282629
- Full Text :
- https://doi.org/10.1111/bjh.18491