AI Article Synopsis
- The study aims to investigate the genetic causes of Cowden syndrome in a 13-year-old boy, focusing on his clinical symptoms and family history.
- The boy exhibited various symptoms including severe mental retardation and skin anomalies, while his mother showed signs of the syndrome as well.
- Whole exome sequencing identified a likely pathogenic variant in the PTEN gene that the boy inherited from his mother, providing important information for genetic counseling.
Article Abstract
Objective: To explore the genetic etiology of a child with Cowden syndrome 1 (CS1).
Methods: A child who had visited the Ningbo Women and Children's Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.
Results: The child, a 13-year-old boy, had manifested with severe mental retardation, hyperactivity, autistic behavior, sparse and prominent teeth, macrocephaly, and skin freckles on the penis. His mother had presented with multiple papules, hamartomatous polyps, thyroid adenoma and macrocephaly. WES results revealed that the child has harbored a nonsense c.781C>T (p.Q261*) variant of the PTEN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.781C>T variant was classified as likely pathogenic (PVS1+PM2_Supporting).
Conclusion: The c.781C>T variant of the PTEN gene probably underlay the pathogenesis in the child and his mother. Above finding has facilitated genetic counseling for this family.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20221213-00870 | DOI Listing |
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