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Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
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Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
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Journal Article
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
2011
Overview
Background
Kallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation in one of the identified KS genes has only been found in ~30% of the patients.
Methods
Herein, we investigated epidemiological, clinical, and genetic features of KS in Finland.
Results
The minimal incidence estimate of KS in Finland was 1:48 000, with clear difference between males (1:30 000) and females (1:125 000) (
p
= 0.02). The reproductive phenotype of 30 probands (25 men; 5 women) ranged from severe HH to partial puberty. Comprehensive mutation analysis of all 7 known KS genes (
KAL1
,
FGFR1
,
FGF8
,
PROK2
,
PROKR2
,
CHD7
, and
WDR11
) in these 30 well-phenotyped probands revealed mutations in
KAL1
(3 men) and
FGFR1
(all 5 women vs. 4/25 men), but not in other genes.
Conclusions
Our results suggest that Finnish KS men harbor mutations in gene(s) yet-to-be discovered with sex-dependent penetrance of the disease phenotype. In addition, some KS patients without
CHD7
mutations display CHARGE-syndrome associated phenotypic features (e.g. ear or eye anomalies), possibly implying that, in addition to
CHD7
, there may be other genes associated with phenotypes ranging from KS to CHARGE.
Publisher
BioMed Central,BioMed Central Ltd,BMC
Subject
/ Adult
/ Extracellular Matrix Proteins - genetics
/ Female
/ Humans
/ Kallmann Syndrome - epidemiology
/ Kallmann Syndrome - genetics
/ Kallmann Syndrome - pathology
/ Male
/ Medicine
/ Mutation
/ Nerve Tissue Proteins - genetics
/ Olfaction Disorders - epidemiology
/ Olfaction Disorders - genetics
/ Olfaction Disorders - pathology
/ Pedigree
