RGD Reference Report - Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. - Rat Genome Database

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Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

Authors: Bouligand, J  Ghervan, C  Tello, JA  Brailly-Tabard, S  Salenave, S  Chanson, P  Lombes, M  Millar, RP  Guiochon-Mantel, A  Young, J 
Citation: Bouligand J, etal., N Engl J Med. 2009 Jun 25;360(26):2742-8. doi: 10.1056/NEJMoa0900136. Epub 2009 Jun 17.
RGD ID: 9685134
Pubmed: PMID:19535795   (View Abstract at PubMed)
DOI: DOI:10.1056/NEJMoa0900136   (Journal Full-text)

We investigated whether mutations in the gene encoding gonadotropin-releasing hormone 1 (GNRH1) might be responsible for idiopathic hypogonadotropic hypogonadism (IHH) in humans. We identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide-containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. Their unaffected parents and a sibling who was tested were heterozygous. This mutation results in an aberrant peptide lacking the conserved GnRH decapeptide sequence, as shown by the absence of immunoreactive GnRH when expressed in vitro. This isolated autosomal recessive GnRH deficiency, reversed by pulsatile GnRH administration, shows the pivotal role of GnRH in human reproduction.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
GNRH1Humanhypogonadotropic hypogonadism 12 with or without anosmia  IAGP DNA:frameshift mutation:cds:c.18-19insA (human)RGD 
Gnrh1Rathypogonadotropic hypogonadism 12 with or without anosmia  ISOGNRH1 (Homo sapiens)DNA:frameshift mutation:cds:c.18-19insA (human)RGD 
Gnrh1Mousehypogonadotropic hypogonadism 12 with or without anosmia  ISOGNRH1 (Homo sapiens)DNA:frameshift mutation:cds:c.18-19insA (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gnrh1  (gonadotropin releasing hormone 1)

Genes (Mus musculus)
Gnrh1  (gonadotropin releasing hormone 1)

Genes (Homo sapiens)
GNRH1  (gonadotropin releasing hormone 1)


Additional Information