In:
Molecular Syndromology, S. Karger AG, Vol. 14, No. 5 ( 2023), p. 433-438
Abstract:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Nowadays, whole-exome sequencing (WES) analysis is an essential part in the diagnostic pathway of individuals with complex phenotypes when routine exams, such as array-CGH and gene panels, have proved inconclusive. However, data on the diagnostic rate of WES analysis in adult individuals, negative to first-tier tests, are lacking. This is because initiatives with the aim of diagnosing rare diseases focus mainly on pediatric unsolved cases. 〈 b 〉 〈 i 〉 Case Presentation: 〈 /i 〉 〈 /b 〉 We hereby present a 45-year-old woman with severe intellectual disability, previous psychomotor developmental delay, behavioral disorders, stereotypies, nonconvulsive epilepsy, and dysmorphisms. The proband first came to our attention when she was 4 years old (in 1982); since then, she has undergone several clinical and instrumental assessments, without reaching a genetic diagnosis. At last, through WES analysis, a novel de novo variant in 〈 i 〉 SYNGAP1 〈 /i 〉 was found. The clinical characteristics associated with 〈 i 〉 SYNGAP1 〈 /i 〉 are similar to those presented by the proband. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 The variant is predicted to be deleterious and is most probably the cause of the proband’s phenotype. The perseverance of the clinicians and the family allowed us to reach a diagnosis in a woman with a more than 30-year history of clinical evaluations, instrumental assessments, and genetic tests. This diagnosis was of significant relevance in genetic counseling for family members and the proband herself.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2023
detail.hit.zdb_id:
2546218-0
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