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. 2023 Aug 2;16(1):18.
doi: 10.1186/s13039-023-00651-3.

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review

Jianlong Zhuang  1 , Shufen Liu  2 , Xinying Chen  3 , Yuying Jiang  4 , Chunnuan Chen  5
Affiliations

Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review

Jianlong Zhuang et al. Mol Cytogenet. .

Abstract

Background: Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Here, we aim to present a Chinese pediatric patient with terminal 4q35.2 microdeletion and use this case to clarify the underlying genotype-phenotype correlation.

Methods: A 17-year-old boy from Quanzhou, South China, was recruited as the main subject in this study. Karyotype and single-nucleotide polymorphism (SNP) based microarray analysis were carried out to detect chromosomal abnormalities and copy number variants in this family. Trio whole exome sequencing (Trio-WES) was performed to investigate the potential pathogenic variant in this family.

Results: During observation, we identified abnormal clinical phenotypes including upper eyelid ptosis, motor developmental delay, abnormal posturing, abnormality of coordination, attention deficit hyperactivity disorder, and involuntary movements in the patient. SNP array analysis results confirmed a case of 2.0 Mb 4q35.2 microdeletion and parental SNP array verification results indicated that the terminal 4q35.2 microdeletion was inherited from his mother. No copy number variants were detected in his father. In addition, the trio-WES results demonstrated none of pathogenic or likely pathogenic variants in the patient.

Conclusions: This study brings a novel analysis of a case of 2.0 Mb terminal 4q35.2 microdeletion affecting a Chinese individual. In addition, additional clinical symptoms such as upper eyelid ptosis and involuntary movements were first reported to affect a patient with terminal 4q35.2 microdeletion, which may broaden the phenotype spectrum of the condition.

Keywords: 4q35.2 microdeletion; Congenital anomalies; Genetic etiology; SNP array; Whole exome sequencing.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
SNP array detection results in the patient of our study. A The SNP array analysis result demonstrates a 2.0 Mb deletion in 4q35.2 region (arr[GRCh37]4q35.2(188,952,176–190,957,473) × 1), the arrow indicates the deletion region. B In the deletion region, four protein code genes were covered, including TRIML1, TRIML2, FRG1 and FRG2
See this image and copyright information in PMC

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