3 FAMILIES WITH HIGH EXPRESSION OF A FRAGILE SITE AT XQ27.3, LACK OF ANOMALIES AT THE FMR-1 CPG ISLAND, AND NO CLEAR PHENOTYPIC ASSOCIATION

被引:17
作者
OBERLE, I
BOUE, J
CROQUETTE, MF
VOELCKEL, MA
MATTEI, MG
MANDEL, JL
机构
[1] FAC MED STRASBOURG,LAB GENET MOLEC EUCARYOTES,CNRS,INSERM,U184,11 RUE HUMANN,F-67085 STRASBOURG,FRANCE
[2] HOP ST ANTOINE,CYTOGENET LAB,LILLE,FRANCE
[3] HOP LA TIMONE,INSERM,U242,MARSEILLE,FRANCE
[4] HOP LA TIMONE,CTR GENET MED,MARSEILLE,FRANCE
[5] INSERM,U73,F-75005 PARIS,FRANCE
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 1-2期
关键词
FRAGILE-X SITE; GENETIC HETEROGENEITY; FOLATE INSENSITIVE; ROBIN SEQUENCE;
D O I
10.1002/ajmg.1320430136
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on 3 families where the presence and segregation at high frequency of a fragile Xq27.3 site is not associated with the mutations and methylation anomalies typically seen in the fragile X [Fra(X)] syndrome. In one family, a folate insensitive fragile site was associated with Robin sequence in the propositus. In a second family a fra(X) negative mother has two fra(X) positive sons (one mentally retarded and the other newborn). The third family presents very high expression of a folate sensitive site, unlinked to mental retardation, and was described previously by Voelckel et al. [1989]. The fragile sites in these or similar families recently described must be different from the one associated with the fra(X) syndrome. Their association with a clinical phenotype or with mental retardation is certainly not consistent, and may represent an ascertainment bias. However, the relatively high frequency with which they have been found among previously diagnosed fra(X) families suggests that, at least in some cases, the association with mental impairment may be significant. In two families reported up to now, a male with high expression of such variant fra(X) site failed to transmit it to his daughter, which may reflect an imprinting effect. Previously diagnosed families should be reinvestigated before direct DNA analysis is used for prenatal or carrier diagnosis of the fra(X) syndrome.
引用
收藏
页码:224 / 231
页数:8
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