Screening of ARX in mental retardation families : consequences for the strategy of molecular diagnosis

Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24...

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Published in:	Neurogenetics Vol. 7; no. 1; pp. 39 - 46
Main Authors:	POIRIER, K, LACOMBE, D, CHELLY, J, BIENVENU, T, GILBERT-DUSSARDIER, B, RAYNAUD, M, DESPORTES, V, DE BROUWER, A. P. M, MORAINE, C, FRYNS, J. P, ROPERS, H. H, BEIDJORD, C
Format:	Journal Article
Language:	English
Published:	Berlin Springer 01-03-2006 Springer Nature B.V Springer Verlag
Subjects:	Adult and adolescent clinical studies Amino Acid Sequence Animals Biological and medical sciences DNA Mutational Analysis Female General aspects. Genetic counseling Genetic Testing Genetics Homeodomain Proteins - genetics Humans Intellectual deficiency Intellectual disabilities Life Sciences Male Medical diagnosis Medical genetics Medical sciences Mental Retardation, X-Linked - diagnosis Mental Retardation, X-Linked - genetics Molecular Diagnostic Techniques Molecular Sequence Data Mutation Pedigree Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Syndrome Transcription Factors - genetics ARX mutations Nervous system diseases PRTS Family study Developmental disorder Medical screening Mental retardation ISSX Screening Intellectual deficiency Family environment Genetics Strategy X-Chromosome Diagnosis Mutation
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Summary:	Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24 bp, was found in families with a variety of phenotypes, but not in the more severe XLAG phenotypes. The aim of the study was to access the frequency of ARX mutations in families with established or putative X-linked mental retardation (XLMR) collected by the European XLMR Consortium. We screened the entire coding region of ARX for mutations in 197 novel XLMR families by denaturing high-performance liquid chromatography, and we identified eight mutations (six c.428_451dup24, one insertion and one novel missense mutation p.P38S). To better define the prevalence of ARX mutations, we included previously reported results of 157 XLMR families. Together, these data showed the relatively high rate (9.5%) of ARX mutations in X-linked MR families and an expectedly low rate in families with affected brother pairs (2.2%). This study confirms that the frequency of ARX mutations is high in XLMR, and the analysis of ARX in MRX should not be limited to duplication.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1364-6745 1364-6753
DOI:	10.1007/s10048-005-0014-0