Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome

Abstract

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.

Author information

Affiliations

Authors

Additional information

Received: March 17, 2000 / Accepted: May 9, 2000

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Nagata, K., Yamamoto, T., Chikumi, H. et al. A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome. J Hum Genet 45, 237–240 (2000). https://doi.org/10.1007/s100380070033

Download citation

  • Key words Kallmann syndrome
  • KAL1
  • Mutation
  • Anosmia
  • Hypogonadism

Further reading

Search

Quick links