Courage, Carolina and Jackson, Christopher B. and Owczarek-Lipska, Marta and Jamsheer, Aleksander and Sowińska-Seidler, Anna and Piotrowicz, Małgorzata and Jakubowski, Lucjusz and Dallèves, Fanny and Riesch, Erik and Neidhardt, John and Lemke, Johannes R. (2019) Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. American journal of medical genetics, 179 (12). pp. 2447-2453. ISSN 1552-4833

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Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable severity, isolated hypogonadotropic hypogonadism, central diabetes insipidus, vertebral anomalies, eye anomalies, and cardiac malformations. Pathogenic variants in FGFR1 have been described to cause phenotypically different FGFR1-related disorders such as Hartsfield syndrome, hypogonadotropic hypogonadism with or without anosmia, Jackson-Weiss syndrome, osteoglophonic dysplasia, Pfeiffer syndrome, and trigonocephaly Type 1. Here, we report three patients with Hartsfield syndrome from two unrelated families. Exome sequencing revealed two siblings harboring a novel de novo heterozygous synonymous variant c.1029G>A, p.Ala343Ala causing a cryptic splice donor site in exon 8 of FGFR1 likely due to gonadal mosaicism in one parent. The third case was a sporadic patient with a novel de novo heterozygous missense variant c.1868A>G, p.(Asp623Gly).

Item Type: Article
Uncontrolled Keywords: FGFR1; Hartsfield syndrome; fibroblast growth factor receptor 1; gonadal mosaicism; holoprosencephaly
Subjects: Technology, medicine, applied sciences > Medicine and health
Divisions: Faculty of Medicine and Health Sciences > Department of Human Medicine
Date Deposited: 12 Mar 2020 11:24
Last Modified: 12 Mar 2020 11:24
URN: urn:nbn:de:gbv:715-oops-44439
DOI: 10.1002/ajmg.a.61354

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