[Analysis of a child with Verheij syndrome due to variant of PUF60 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1536-1540, 2023 Dec 10.
Article
en Zh
| MEDLINE
| ID: mdl-37994138
ABSTRACT
OBJECTIVE:
To explore the clinical phenotype and genetic variant in a child with Verheij syndrome (VRJS).METHODS:
A child who had presented at the Soochow University Affiliated Children's Hospital and Wujiang District Children's Hospital in July 2022 for "elevated scapula since early childhood" was selected as the study subject. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.RESULTS:
The child had manifested elevated scapulae, torticollis, neck asymmetry, facial dysmorphism, dispersed café-au-lait spots, limited mobility of upper limbs and shoulder joints, and intellectual disability. Sequencing revealed that he has harbored a de novo heterozygous c.405dupT (p.Ile136Tyrfs*4) variant of the PUF60 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), this variant was classified as pathogenic (PVS1+PS2_moderate+PM2_supporting). Combined his clinical features and result of genetic testing, the child was diagnosed with VRJS due to variant of the PUF60 gene.CONCLUSION:
The clinical manifestations of VRJS include facial dysmorphism, intellectual disability, elevated scapulae, vertebral fusion, other skeletal malformations, without significant abnormalities of the heart, kidney, and eyes, which need to be distinguished from Klippel-Feil syndrome. Above finding has expended the mutation spectrum of the PUF60 gene and provided a reference for delineation of the genotype-phenotype correlation of the VRJS.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Discapacidad Intelectual
Límite:
Child
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Child, preschool
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Humans
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Male
Idioma:
Zh
Año:
2023
Tipo del documento:
Article