title: ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
abstract: ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. seematranjan@gmail.com
authors.forename: Seema
authors.initials: S
authors.lastname: Thakur
authors.forename: Mala
authors.initials: M
authors.lastname: Ishrie
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.forename: Rose
authors.initials: R
authors.lastname: Linda
authors.forename: Auro
authors.initials: A
authors.lastname: Viswabandya
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D004265:DNA Helicases / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D035781:Siblings; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein
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