Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for the MRX locus

被引：0

作者：

Muroya, K

Ogata, T

Matsuo, N

Nagai, T

Franco, B

Ballabio, A

Rappold, G

Sakura, N

Fukushima, Y

机构：

[1] KEIO UNIV,SCH MED,DEPT PEDIAT,SHINJUKU KU,TOKYO 160,JAPAN

[2] TOKYO METROPOLITAN KIYOSE CHILDRENS HOSP,DEPT PEDIAT,TOKYO,JAPAN

[3] HIROSHIMA UNIV,SCH MED,DEPT PEDIAT,HIROSHIMA,JAPAN

[4] SHINSHU UNIV,SCH MED,DEPT HYG & MED GENET,MATSUMOTO,NAGANO 390,JAPAN

[5] TELETHON INST GENET & MED,MILAN,ITALY

[6] UNIV HEIDELBERG,DEPT HUMAN GENET,HEIDELBERG,GERMANY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 64卷 / 04期

关键词：

mental retardation; X chromosome; X-inactivation; interstitial deletion; gene locus;

D O I：

10.1002/(SICI)1096-8628(19960906)64:4<583::AID-AJMG11>3.0.CO;2-D

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although genotype-phenotype correlations in male patients with various types of nullisomy for Xp22.3 have assigned a locus for X-linked mental retardation (MRX) to an approximately 3-Mb region between DXS31 and STS, the precise location has not been determined. In this paper, we describe a 14 7/12 year old Japanese boy with mental retardation and an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1, and compare the deletion map with that of previously reported three familial male patients with low-normal intelligence and a similar interstitial deletion at Xp22.3. The results suggest that the MRX gene is further localized to the roughly 1.5-Mb region between DXS1060 and DXS1139. (C) 1996 Wiley-Liss, Inc.

引用

页码：583 / 587

页数：5