Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction

This case expands the phenotypic spectrum of <i>FLNA</i> deficiency, linking a nonsense mutation to a severe clinical course with fatal complications such as necrotizing enterocolitis and sepsis, highlighting the need for vigilant multi-organ monitoring.

Authors

Z G Liu (ORCID: https://orcid.org/0000-0003-4842-7225)
Liangzhi Qiao (ORCID: https://orcid.org/0000-0001-8954-0676)
Xin Pan (ORCID: https://orcid.org/0000-0002-1982-2261)
Yi Liao
Jie Liu (ORCID: https://orcid.org/0009-0005-7275-2214)

Institutions

Sichuan University (CN)
Meizhou City People's Hospital (CN)
West China Second University Hospital of Sichuan University (CN)

Publication Details

Journal: Frontiers in Genetics
Published: 2026-01-04
DOI: https://doi.org/10.3389/fgene.2025.1693117
Primary Topic: Nuclear Structure and Function
Type: article
Field-Weighted Citation Impact: 0.00

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article

Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction

Z G Liu, Liangzhi Qiao, Xin Pan, Yi Liao et al.

Jan 4, 2026

Frontiers in Genetics

Nuclear Structure and Function

article

Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction

Z G Liu, Liangzhi Qiao, Xin Pan, Yi Liao, Jie Liu

January 4, 2026article en

Abstract

This case expands the phenotypic spectrum of <i>FLNA</i> deficiency, linking a nonsense mutation to a severe clinical course with fatal complications such as necrotizing enterocolitis and sepsis, highlighting the need for vigilant multi-organ monitoring.

Frontiers in GeneticsVol. 16

Sichuan University (CN), Meizhou City People's Hospital (CN), West China Second University Hospital of Sichuan University (CN)

Openalex Percentile: Top 97%

Nuclear Structure and Function

DOI Open Access PDF OpenAlex

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Case Report: genotype–phenotype correlations in FLNA mutations: insights from a case of multisystem dysfunction — Z G Liu, Liangzhi Qiao, et al. · Frontiers in Genetics (2026) | TGRS Research Map | TGRS