Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
27 Nov 2023
27 Nov 2023
Historique:
revised:
12
10
2023
received:
30
08
2023
accepted:
04
11
2023
medline:
28
11
2023
pubmed:
28
11
2023
entrez:
28
11
2023
Statut:
aheadofprint
Résumé
A G2P0, 24-year-old woman presented at 17 weeks 3 days gestation for a fetal anatomy scan. Ultrasound identified bilateral upper and lower extremity ectrodactyly, semilobar holoprosencephaly, midface hypoplasia, and cleft lip and palate. Amniocentesis for a chromosome microarray demonstrated no significant copy number changes. Whole exome sequencing was subsequently completed, which revealed a de novo, likely pathogenic variant in FGFR1, c.2044G>A (D682N), consistent with FGFR1-related Hartsfield syndrome. This case highlights the first presumed molecularly confirmed prenatal diagnosis of Hartsfield syndrome and identifies a new pathogenic variant.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 John Wiley & Sons Ltd.
Références
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Takenouchi T, Okuno H, Kosaki R, et al. Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting. Am J Med Genet A. 2012;158A(10):2537-2541. https://doi.org/10.1002/ajmg.a.35465
Courage C, Jackson CB, Owczarek-Lipska M, et al. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Am J Med Genet A. 2019;179(12):2447-2453. https://doi.org/10.1002/ajmg.a.61354
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