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Article

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.

British journal of haematology - 1 Jul 2026

Dellal Hadjer, Klifa Roman, Larcher Lise, Passet Marie, Celse Tristan, Gouas Laetitia, Tusseau Maud, Praga Alexis, Bernard Virginie, Fusaro Mathieu

Abstract excerpt

Germline gain-of-function variants in sterile alpha motif domain-containing 9-like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7, somatic loss-of-function (LOF) variants in cis or uniparental disomy...

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Topics

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intracellular Signaling Peptides and Proteins

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Source

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Identifiers

PMID: 42154215
DOI: 10.1111/bjh.70563
PMCID: PMC13340485

Genes

SAMD9L
SAMD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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