Rare Diseases Symptoms Automatic Extraction

A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome.

[kallmann syndrome]

To describe a novel KAL1 mutation in patients affected by Kallmann syndrome.Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Pará, Brazil.Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 gene in four Brazilian brothers with Kallmann syndrome.Detected a novel KAL1 mutation, c.612G.A/p.Trp204*, in four hemizygous brothers with Kallmann syndrome, and five heterozygous female family members.The novel p.Trp204* mutation of the KAL1 gene results in the production of a truncated anosmin-1 enzyme in patients with Kallmann syndrome. This finding broadens the spectrum of pathogenic mutations for this disease.

Diseases presenting "heterozygous female family members" symptom

  • kallmann syndrome

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