Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
Eur J Hum Genet
; 18(3): 285-90, 2010 Mar.
Article
in En
| MEDLINE
| ID: mdl-19844254
ABSTRACT
X-linked mental retardation is a common disorder that accounts for 5-10% of cases of mental retardation in males. Fragile X syndrome is the most common form resulting from a loss of expression of the FMR1 gene. On the other hand, partial duplication of the long arm of the X chromosome is uncommon. It leads to functional disomy of the corresponding genes and has been reported in several cases of mental retardation in males. In this study, we report on the clinical and genetic characterization of a new X-linked mental retardation syndrome characterized by short stature, hypogonadism and facial dysmorphism, and show that this syndrome is caused by a small Xq27.3q28 interstitial duplication encompassing the FMR1 gene. This family broadens the phenotypic spectrum of FMR1 anomalies in an unexpected manner, and we suggest that this condition may represent the fragile X syndrome "contre-type".
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Gene Duplication
/
Chromosomes, Human, X
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Mental Retardation, X-Linked
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Fragile X Mental Retardation Protein
/
Methyl-CpG-Binding Protein 2
Type of study:
Etiology_studies
Limits:
Adult
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
/
Pregnancy
Language:
En
Journal:
Eur J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2010
Document type:
Article
Affiliation country: