The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome.

[kallmann syndrome]

To present the clinical , genetic , biochemical , and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS ).Case report .University medical center .Two Chinese siblings .Clinical evaluation , hormone assays , and gene mutation research .Endocrinologic evaluation and genetic analysis .A missense mutation of KAL 1 , c .1828 G >A , led to pVal 610 Ile substitution in two brothers with KS ; their mother is heterozygous for this missense mutation encoded by single -nucleotide polymorphism rs 2229013 .Mutation analysis revealed that a missense mutation of KAL 1 in two brothers with KS , while their mother was heterozygous for this missense mutation encoded by the single -nucleotide polymorphism rs 2229013 . Variant alleles of KAL 1 related to X-linked recessive KS expand the spectrum of KAL 1 mutations causing KS .

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

You can validate or delete this automatically detected symptom