Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome
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Emilio García-García
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Raquel M. Fernández
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.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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© 2022 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
- Use of letrozole to augment height outcome in pubertal boys: a retrospective chart review
- Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran
- Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors
- Utility of head CT scan in treatment decisions for suspected cerebral edema in children with DKA
- Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
- Performance of glucagon stimulation test in diagnosing central adrenal insufficiency in children when utilising the Roche Elecsys® cortisol II assay: a pilot study
- Effects and dose-response relationship of exercise training on cardiometabolic risk factors in children with obesity
- Biochemical indicators of euthyroid sick syndrome in critically ill children
- Short Communication
- Parental marital relationship satisfaction predicts glycemic outcomes in children with type 1 diabetes
- Case Reports
- Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism
- Three pediatric cases of symptomatic hyponatremia in Prader–Willi syndrome
- Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome
- Exaggerated mini-puberty in a preterm girl: a case report and review of literature
- Diabetic ketoacidosis masquerading behind alkalemia an undiagnosed or missed variant of diabetic ketoacidosis
