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

[kallmann syndrome]

To describe a novel KAL 1 mutation in patients affected by Kallmann syndrome .Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Par á , Brazil .Clinical examination , hormone assays and sequencing of exons 5 , 6 and 9 of the KAL 1 gene in four Brazilian brothers with Kallmann syndrome .Detected a novel KAL 1 mutation , c .612 G .A /p .Trp 204 *, in four hemizygous brothers with Kallmann syndrome , and five heterozygous female family members .The novel p .Trp 204 * mutation of the KAL 1 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
Validation

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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