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 "c" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • coats disease
  • cohen syndrome
  • dedifferentiated liposarcoma
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kallmann syndrome
  • oligodontia
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • von hippel-lindau disease
  • x-linked adrenoleukodystrophy

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