title: Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
abstract: Mutations in the SLC9A6 gene cause Christianson syndrome in boys. This X-linked syndrome is characterized by profound mental retardation with autistic behavior, microcephaly, epilepsy, ophthalmoplegia, and ataxia. Progressive cerebellar atrophy with motor regression is a remarkable feature in some patients. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation. The infantile phenotype suggested pervasive developmental disorder, then profound mental retardation ensued. In later childhood, progressive cerebellar atrophy was diagnosed on serial brain MRIs and motor regression occurred. Furthermore, ophthalmological evaluations showed a retinitis pigmentosum previously unreported in this condition. We conclude that the natural history of the disease in this patient tends to confirm the degenerative nature of Christianson syndrome, and that retinal degeneration may be part of the condition. Before the onset of degeneration, the syndromic association of severe mental retardation, autistic behavior, external ophthalmoplegia, and facial dysmorphism in male patients is a clue to the diagnosis.
authors.affiliation: APHP, Groupe Hospitalier Pitié Salpêtrière, Unité Fonctionnelle de Génétique Médicale, Paris, France. cyril.mignot@psl.aphp.fr
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Joseph
authors.initials: J
authors.lastname: Bursztyn
authors.forename: Marta
authors.initials: M
authors.lastname: Momtchilova
authors.forename: Michèle
authors.initials: M
authors.lastname: Mayer
authors.forename: Sandra
authors.initials: S
authors.lastname: Whalen
authors.forename: Anne
authors.initials: A
authors.lastname: Legall
authors.forename: Thierry
authors.initials: T
authors.lastname: Billette de Villemeur
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
mesh_terms: D001259:Ataxia / Q000209:etiology; D001284:Atrophy; D002526:Cerebellar Diseases / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004569:Electroencephalography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000523:psychology; D009154:Mutation / Q000235:genetics / Q000502:physiology*; D012162:Retinal Degeneration / Q000209:etiology / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000523:psychology; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers