Identification of a novel mutation in <i>FGFR1</i> gene in mother and daughter with Kallmann syndrome-Reference-Cited by-同舟云学术

Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome

Published:2022-08-08 Issue:10 Volume:35 Page:1306-1308
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

García-García Emilio¹,Fernández Raquel M.²,Navarro-Moreno Constanza¹,Gómez-Gila Ana L.¹,Borrego Salud²

Affiliation:

1. Pediatric Endocrinology Unit , Virgen del Rocío University Hospital , Sevilla , Spain

2. Department of Maternofetal Medicine, Genetics and Reproduction , Virgen del Rocío University Hospital , Sevilla , Spain

Abstract

Abstract Objectives Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects. Case presentation Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast growth factor receptor 1 gene (FGFR1). Interestingly, the daughter presented syndactyly and oligodactyly of the feet. Conclusions The presence of bone malformations in a KS patient should direct the geneticist towards a search for specific mutations in FGFR1. Our finding contributes to enrich the spectrum of FGFR1 mutations in patients with KS.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2021-0730/pdf

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