Evidence map›Paper›PMID 41728594›Full record

ArticleFrontiers in medicine2026

Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.

Yuanhang Zhu, Fangying Cui, Xuezhe Ouyang, Jing Guo, Yaming Liu, Naiqi Li, Qian Yang, Yali Li, Ling Liu

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in 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

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Yuanhang ZhuDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Fangying CuiDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Xuezhe OuyangDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Jing GuoDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Yaming LiuDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Naiqi LiDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Qian YangDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Yali LiDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Ling LiuDepartment of Medical Genetics and Prenatal Diagnostics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Intellectual disorder, Type 98 (ID 98) is an X-linked disorder characterized by intellectual disability, epilepsy, and multisystem manifestations. This condition is caused by pathogenic variants in the NEXMIF gene through X-linked dominant inheritance. Case presentation: We identified a novel hemizygous NEXMIF variant (c.1939_1942delinsAT, p.S647Ifs*3) in a 5-year-old male with severe intellectual disability via trio whole-exome sequencing. His mildly affected mother was a heterozygous carrier. Prenatal diagnosis for the mother's subsequent pregnancy identified the same hemizygous variant in the male fetus. Following genetic counseling, the decision was made to terminate the pregnancy, thereby preventing the clinical manifestation of the disease in the offspring. Conclusion: This report expands the NEXMIF mutational spectrum and underscores the critical role of genetic testing in achieving early diagnosis and informed reproductive counseling for families affected by this disorder.

Indexed as

genetic counselingintellectual disability type 98NEXMIFsanger sequencingwhole exome sequencing

Identifiers

PMID41728594
PMCPMC12920596

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.