Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders - 29/01/24
Abstract |
Objective |
To evaluate the presence of multiple genetic diagnoses in syndromic growth disorders.
Study design |
We carried out a cross-sectional study to evaluate 115 patients with syndromic tall (n = 24) or short stature (n = 91) of unknown cause from a tertiary referral center for growth disorders. Exome sequencing was performed to assess germline single nucleotide, InDel, and copy number variants. All variants were classified according to ACMG/AMP guidelines. The main outcome measured was the frequency of multiple genetic diagnoses in a cohort of children with syndromic growth disorders.
Results |
The total diagnostic yield of the cohort was 54.8% (63/115). Six patients had multiple genetic diagnoses (tall stature group = 2; short stature group = 4). The proportion of multiple diagnoses within total cases was 5.2% (6/115), and within solved cases was 9.5% (6/63). No characteristics were significantly more frequent when compared with patients with single or multiple genetic findings. Among patients with multiple diagnoses, 3 had syndromes with overlapping clinical features, and the others had syndromes with distinct phenotypes.
Conclusion |
Recognition of multiple genetic diagnoses as a possibility in complex cases of syndromic growth disorders opens a new perspective on treatment and genetic counseling for affected patients, defying the medical common sense of trying to fit all findings into one diagnosis.
Le texte complet de cet article est disponible en PDF.Keywords : genetics, short stature, tall stature, multiple genetic diseases
Abbreviations : BMI, CMA, CNV, ES, IGF-1, MEN, MTC, NGS, OMIM, rhGH, SDS
Plan
| Author to whom reprint requests should be addressed: Alexander Augusto de Lima Jorge, MD, PhD. |
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| Prior presentation of study data as an abstract or poster: The present study was previously presented as an oral presentation at The Latin American Society of Pediatric Endocrinology Meeting (SLEP) 2022 and subsequently published as an abstract in The Hormone Research in Pediatrics Journal [Horm Res Paediatr 2023; 96(suppl 1):1 – 53 DOI: 10.1159/000529082] and was presented as a poster at The Endocrine Society Meeting (ENDO) 2023. |
Vol 265
Article 113841- février 2024 Retour au numéro
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