Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.
We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers.
Parenti
G
G
Department of Pediatrics, Federico II University, Naples, Italy.
Rizzolo
M G
MG
Ghezzi
M
M
Di Maio
S
S
Sperandeo
M P
MP
Incerti
B
B
Franco
B
B
Ballabio
A
A
Andria
G
G
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D005091:Exons; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009679:Nuclear Family; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014960:X Chromosome
D017931:DNA Primers