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CASE REPORT article

Front. Genet.
Sec. Molecular Cytogenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1436462

Case report: a novel FBXW7 gene variant causes global developmental delay

Provisionally accepted
Yu Wang Yu Wang 1Xiaoping Ma Xiaoping Ma 2Hua Li Hua Li 2Yanrui Dai Yanrui Dai 1Xiaochen Wang Xiaochen Wang 2Li Liu Li Liu 2*
  • 1 Ningxia Medical University, Yinchuan, Ningxia, China
  • 2 The First People's Hospital of Yinchuan, Yinchuan, Ningxia Hui Region, China

The final, formatted version of the article will be published soon.

    OBJECTIVE: To investigate a case of neurodevelopmental disorder caused by mutation of FBXW7. METHODS: Clinical data were collected from the patient, trio-WES (whole-exome sequencing) was performed on the patient and his parents (trio), and the results were verified by Sanger sequencing. RESULTS: The patient was a two-year and one-month old male who presented with facial dysmorphism (prominent forehead, ocular hypertelorism, and low nasal bridge), global developmental delay, language impairment, hypertonia, labial hemangioma, hydrocele, and overgrowth. The trio-WES confirmed that the child had a pathogenic de novo FBXW7 gene variant, c.1612C>T (p.G1n538*), a heretofore unreported locus. CONCLUSIONS: This case of developmental delay, hypotonia, and impaired language (OMIM: #620012) related to a mutation in FBXW7, is a rare genetic disorder, newly identified in recent years, and seldom reported. The presence of hypertonia, labial hemangioma, and hydrocele in this child suggests significant phenotypic heterogeneity of the disease, and the discovery of new mutant loci enriches the spectrum of pathogenic variants of the disease.

    Keywords: Fbxw7, Hypertonia, Global developmental delay, Intellectual Disability, Trio-WES

    Received: 22 May 2024; Accepted: 26 Aug 2024.

    Copyright: © 2024 Wang, Ma, Li, Dai, Wang and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Li Liu, The First People's Hospital of Yinchuan, Yinchuan, 750001, Ningxia Hui Region, China

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