title: A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.
abstract: The objective of this study was to identify disease-causing mutations in a Sri Lankan male child presenting with ambiguous genitalia and psychomotor delay using the exome sequencing approach. A novel mutation in the aristaless-related homeobox (ARX) gene causing a hemizygous nucleotide substitution in exon 5 was identified (NM_139058.2 (ARX): c.1614G>T; p.K538N). This change causes a nonsynonymous substitution in the aristaless domain within the ARX protein which is predicted to be deleterious. This is the first reported case of ambiguous genitalia and psychomotor delay associated with this novel missense mutation within the ARX protein, and it highlights the value of exome sequencing even in sporadic cases.
authors: Human Genetics Unit, University of Colombo, Colombo, Sri Lanka.
authors: Nirmala Dushyanthi
authors: ND
authors: Sirisena
authors: Kenneth
authors: K
authors: McElreavey
authors: Anu
authors: A
authors: Bashamboo
authors: K Shamya H
authors: KS
authors: de Silva
authors: Rohan W
authors: RW
authors: Jayasekara
authors: Vajira H W
authors: VH
authors: Dissanayake
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D012734:Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary / Q000235:genetics; D011596:Psychomotor Disorders / Q000150:complications / Q000235:genetics*; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors