Evidence map›Paper›PMID 42056350›Full record

ArticleMolecular genetics & genomic medicine2026

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.

Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang

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PubMed Full text at PMC Publisher
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Article in Molecular genetics & genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Zixuan WangCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Hui JingCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Yuhan ChenCollege of Medical Technology, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Ling ZhongGenetic Diseases Key Laboratory of Sichuan Province and the Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China.
Jiyun YangGenetic Diseases Key Laboratory of Sichuan Province and the Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China.

Funding

Chinese Academy of Medical Sciences 2022-I2M-C&T-B-117
6 · The paper itself

Abstract

backgroundSevere congenital neutropenia (SCN) is a heterogeneous hematopoietic disorder characterized by impaired granulocyte maturation and increased susceptibility to infections. Over 25 genes have been linked to SCN, yet the molecular pathogenesis remains unknown in 30%-50% of cases. This study aimed to expand the understanding of SEC61A1 variant-mediated diseases.

methodsClinical data were collected from the patient. Whole-exome sequencing was performed, followed by Sanger sequencing for familial validation. Bioinformatics, conservation, and protein structural analyses were conducted to evaluate candidate variants.

resultsWe report an 11-year-old boy with decreased neutrophils and lymphocytes, and elevated proportions of monocytes and eosinophils. Bone marrow showed granulocytic hyperplasia with maturation arrest and nuclear abnormalities. Flow cytometric analysis of bone marrow cells is indicative of aberrant myeloid antigen differentiation and impaired granulocytic maturation. A novel de novo pathogenic SEC61A1 variant (c.1135 T > C; p.Trp379Arg) was identified. Structural analysis suggested that this variant may disrupt protein conformational stability.

conclusionsThe SEC61A1 c.1135 T > C (p.Trp379Arg) variant is considered likely pathogenic. This is the second reported SEC61A1 variant associated with SCN11, expanding the genetic and phenotypic spectrum of SCN.

Indexed as

Congenital Bone Marrow Failure SyndromesNeutropeniaChildHeterozygoteHumansMaleimmunodeficiencyrare diseaseSEC61A1severe congenital neutropenia

Identifiers

PMID42056350
PMCPMC13128344

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