Journal
JOURNAL OF HUMAN GENETICS
Volume 45, Issue 4, Pages 237-240Publisher
SPRINGER-VERLAG TOKYO
DOI: 10.1007/s100380070033
Keywords
Kallmann syndrome; KAL1; mutation; anosmia; hypogonadism
Categories
Ask authors/readers for more resources
We identified a novel interstitial deletion that spanned from exons 5 to 10 of KAL1 in two Japanese brothers with X- linked Kallmann syndrome (KS; MIM no. 308700). Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Their mother was confirmed to be an asymptomatic carrier, by use of a comparative multiplex polymerase chain reaction (PCR) analysis. The present patients are further examples of patients with KS without mental disturbance caused by a mutation confined to KAL1.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available