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

被引：15

作者：

Nagata, K

Yamamoto, T

Chikumi, H

Ikeda, T

Yamamoto, H

Hashimoto, K

Yoneda, K

Nanba, E

Ninomiya, H

Ishitobi, K

机构：

[1] Tottori Univ, Fac Med, Dept Internal Med 3, Yonago, Tottori 6838504, Japan

[2] Tottori Univ, Ctr Gene Res, Yonago, Tottori, Japan

[3] Tottori Univ, Fac Med, Sch Life Sci, Dept Neurobiol, Yonago, Tottori 683, Japan

[4] Tottori Univ, Hlth Sci Ctr, Yonago, Tottori 683, Japan

来源：

JOURNAL OF HUMAN GENETICS | 2000年 / 45卷 / 04期

关键词：

Kallmann syndrome; KAL1; mutation; anosmia; hypogonadism;

D O I：

10.1007/s100380070033

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：237 / 240

页数：4

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