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Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

Abstract：

:Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG repeat in the promoter region of the FMR1 (fragile X mental retardation 1) gene at Xq27.3. We describe a double consanguineous family with four sisters compound heterozygotes for the full and pre-mutation CGG repeat size. The index case shows clinical features of the affected males with profound mental retardation; the other three sisters also suffer from mental retardation, ranging from mild to severe. Molecular analysis reveals very similar ranges for the CGG expansions for both chromosomes in all four sisters. The phenotypic differences observed in the index case and her sisters are the total inactivation of X premutated chromosome and the total absence of FMRP (fragile X mental retardation protein). This family case raises important issues for genetic counseling in families with consanguinity and with cases of idiopathic mental retardation.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Martorell L,Nascimento MT,Colome R,Genovés J,Naudó M,Nascimento A

doi

10.1038/jhg.2010.140

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

87-90

issue

1

eissn

1434-5161

issn

1435-232X

pii

jhg2010140

journal_volume

56

pub_type

杂志文章

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