title: The phenotypic spectrum of ARX mutations.
abstract: Mutations in the ARX gene can result in many different phenotypes, including phenotypes associated with severe brain malformations and less severe phenotypes associated with syndromic or non-syndromic forms of XLMR. There seems to be a consistent genotype-phenotype correlation and both interfamilial and intrafamilial variability of expression of some of the mutations, particularly the common 428-451dup(24 bp) mutation. Familiarity with the phenotypic spectrum of ARX mutations is helpful in determining when to request ARX mutation analysis.
authors.affiliation: Clinical Genetics Service, City Hospital, Nottingham, UK. mohnishsuri@hotmail.com
authors.forename: Mohnish
authors.initials: M
authors.lastname: Suri
mesh_terms: D000818:Animals; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D025064:Sex Chromosome Disorders / Q000235:genetics; D013036:Spasms, Infantile / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors