# Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of SLFN14 Gene: A Case Report

## TL;DR

A new case of severe low platelet count in twins is linked to a genetic change in the SLFN14 gene, expanding understanding of inherited blood disorders.

## Contribution

A novel heterozygous SLFN14 variant is identified as a cause of severe thrombocytopenia in twins.

## Key findings

- A c.1766T > C variant in the SLFN14 gene was found in twins with severe thrombocytopenia.
- The variant was also present in the mother and maternal grandmother, who showed no symptoms.
- The twins had abnormal megakaryocyte maturation and reduced platelet counts.

## Abstract

Inherited thrombocytopenias (ITs) are a diverse group of hematological disorders. This study reports a novel case of severe thrombocytopenia in two male twins from nonconsanguineous parents. Whole exome sequencing (WES) identified a heterozygous genetic variant (c.1766T > C; p.L589S) in the helicase domain of the SLFN14 gene in the twins, their mother, and maternal grandmother, while the father and maternal grandfather did not carry the genetic variant. Despite carrying the genetic variant, the mother and maternal grandmother showed no abnormal phenotypes. The twins exhibited significantly reduced platelet counts, abnormal megakaryocyte accumulation, and arrested maturation, broadening the spectrum of SLFN14‐related thrombocytopenia.

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