Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

doi:10.3390/ijms27041735

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Article

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

International journal of molecular sciences - 11 Feb 2026

Pantea Cristina-Loredana, Bataneant Mihaela, Zimbru Cristian G, Serban Margit, Puiu Maria, Chirita-Emandi Adela

Abstract excerpt

More than 30 distinct genetic entities associated with severe congenital neutropenia (SCN) have been described. SCN has a risk of clonal expansion of mutated hematopoietic cells. Jagunal homolog 1 (JAGN1) deficiency has been described as a genetic cause of SCN and is now estimated to account for approximately 10% of all SCN cases. One prevalent variant in patients with JAGN1 deficiency is NM_032492.4:c.63G>T...

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PMID: 41751872
DOI: 10.3390/ijms27041735
PMCID: PMC12940244

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JAGN1

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