CLINICAL VARIABILITY AND GENETIC-HETEROGENEITY WITHIN THE ACADIAN USHER POPULATION

被引：24

作者：

SMITH, RJH

PELIAS, MZ

DAIGER, SP

KEATS, B

KIMBERLING, W

HEJTMANCIK, JF

机构：

[1] UNIV IOWA HOSP & CLIN,IOWA CITY,IA 52242

[2] LOUISIANA STATE UNIV,MED CTR,NEW ORLEANS,LA 70112

[3] UNIV TEXAS,CTR SCI,HOUSTON,TX 77025

[4] BOYS TOWN NATL RES HOSP,OMAHA,NE

[5] NIH,BETHESDA,MD 20892

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 06期

关键词：

USHER SYNDROME TYPE-1(USH1); USHER SYNDROME TYPE-2 (USH2); USHER PHENOTYPE; USHER GENOTYPE;

D O I：

10.1002/ajmg.1320430612

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A number of Usher syndrome (USH) families are found among the French-Acadians living in southwestern Louisiana. These families are descended from a few common ancestors, suggesting that USH may be homogeneous within this ethnic group. However, we report distinct phenotypic variability. Based on differences in psychomotor development and tests of auditory and vestibular function, Acadian individuals with both USH Type 1 and Type 2 can be identified. One additional family, with unusual findings, represents a third clinical phenotype. Linkage data strongly support these clinical observations.

引用

页码：964 / 969

页数：6

共 15 条

[1]

ARSENAULT B, 1978, HISTOIRE GENEALOGIE

[2] USHER SYNDROME - DEFINITION AND ESTIMATE OF PREVALENCE FROM 2 HIGH-RISK POPULATIONS [J].

BOUGHMAN, JA ;

VERNON, M ;

SHAVER, KA .

JOURNAL OF CHRONIC DISEASES, 1983, 36 (08) :595-603

[3] USHERS SYNDROME - OPHTHALMIC AND NEURO-OTOLOGIC FINDINGS SUGGESTING GENETIC-HETEROGENEITY [J].

FISHMAN, GA ;

KUMAR, A ;

JOSEPH, ME ;

TOROK, N ;

ANDERSON, RJ .

ARCHIVES OF OPHTHALMOLOGY, 1983, 101 (09) :1367-1374

[4]

KARJALAINEN S, 1985, ADV AUDIOL, V3, P32

[5] LOCALIZATION OF USHER SYNDROME TYPE-II TO CHROMOSOME-1Q [J].

KIMBERLING, WJ ;

WESTON, MD ;

MOLLER, C ;

DAVENPORT, SLH ;

SHUGART, YY ;

PRILUCK, IA ;

MARTINI, A ;

MILANI, M ;

SMITH, RJ .

GENOMICS, 1990, 7 (02) :245-249

[6]

KLOEPFER HW, 1966, LARYNGOSCOPE, V76, P850

[7] MAPPING RECESSIVE OPHTHALMIC DISEASES - LINKAGE OF THE LOCUS FOR USHER SYNDROME TYPE-II TO A DNA MARKER ON CHROMOSOME-1Q [J].

LEWIS, RA ;

OTTERUD, B ;

STAUFFER, D ;

LALOUEL, JM ;

LEPPERT, M .

GENOMICS, 1990, 7 (02) :250-256

[8]

LINDENOV H, 1945, OP EX DOMO BIOL HERE, V8, P1

[9]

MCLEOD AC, 1971, ARCH OTOLARYNGOL, V94, P32

[10]

MOLLER CG, 1989, LARYNGOSCOPE, V99, P73

← 1 2 →