RGD Reference Report - Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. - Rat Genome Database

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Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.

Authors: Sato, N  Hasegawa, T  Hori, N  Fukami, M  Yoshimura, Y  Ogata, T 
Citation: Sato N, etal., Hum Reprod. 2005 Aug;20(8):2173-8. Epub 2005 Apr 21.
RGD ID: 11567240
Pubmed: PMID:15845591   (View Abstract at PubMed)
DOI: DOI:10.1093/humrep/dei052   (Journal Full-text)

Gonadotrophin therapy (GT) is frequently used to induce fertility in Kallmann syndrome (KS). We studied the effects and the consequences of GT in autosomal dominant KS caused by heterozygous FGFR1 mutations. Three Japanese families were examined. In family A, an adult male received GT and had two sons. In family B, an adult female received GT and gave birth to dizygotic male and female twins. In family C, an adult female received GT and produced a son and a daughter. Direct sequencing was performed for FGFR1, and clinical assessment was carried out for KS features. The father and the elder son of family A had P745S mutation, the mother and the female twin of family B had G687R mutation, and the mother and the two children of family C had S107X mutation. KS phenotype was detected for the mutation-positive subjects, except for the elder son of family A who had apparently normal phenotype. GT in FGFR1 mutations is effective in acquiring fertility but has a risk of transmitting the mutation and the disease phenotype to the next generation.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FGFR1HumanHypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  IAGP DNA:missense mutation and nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) RGD 
Fgfr1RatHypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  ISOFGFR1 (Homo sapiens)DNA:missense mutation and nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) RGD 
Fgfr1MouseHypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant  ISOFGFR1 (Homo sapiens)DNA:missense mutation and nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fgfr1  (Fibroblast growth factor receptor 1)

Genes (Mus musculus)
Fgfr1  (fibroblast growth factor receptor 1)

Genes (Homo sapiens)
FGFR1  (fibroblast growth factor receptor 1)


Additional Information