Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detectio...

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Bibliographic Details
Published inOrphanet journal of rare diseases Vol. 10; no. 1; p. 71
Main Authors Sarfati, Julie, Bouvattier, Claire, Bry-Gauillard, Hélène, Cartes, Alejandra, Bouligand, Jérôme, Young, Jacques
Format Journal Article
LanguageEnglish
Published England BioMed Central Ltd 09.06.2015
BioMed Central
Subjects
Adult
Extracellular Matrix Proteins - genetics
Female
Fetus - metabolism
Genetic aspects
Genetic disorders
Health aspects
Humans
Kallmann Syndrome - diagnosis
Kallmann Syndrome - genetics
Letter to the Editor
Medical genetics
Mutation
Nerve Tissue Proteins - genetics
Pedigree
Pregnant women
Receptor, Fibroblast Growth Factor, Type 1 - genetics
Risk factors
France
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Summary:Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detection by fetal ultrasound: syndactyly or unilateral renal agenesis in subjects with respectively FGFR1 and KAL1 mutations. In relevant family history, ultrasound monitoring can detect KS associated signs before birth and thus enable neonatal diagnosis and early management. These observations also underline the importance of genetic counselling for patients who may transmit KS to their offspring.
Bibliography:SourceType-Other Sources-1
ObjectType-Article-2
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ObjectType-Correspondence-1
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-015-0287-9