Expanding the phenotype associated with missense mutations of the ARX gene

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1813-1816

  Charzewska, Agnieszka ^a   Nawara, Magdalena ^a   Jakubiuk Tomaszuk, Anna ^a,b   Obersztyn, Ewa ^a   Hoffman Zacharska, Dorota ^a,c   Elert, Ewelina ^a,c   Jurek, Marta ^a   Bartnik, Magdalena ^a   Poznański, JaroslDaw ^d   Bal, Jerzy ^a  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

^c UNIVERSITY OF WARSAW   (Poland)

^d INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; CARBAMAZEPINE; ETIRACETAM;

ADOLESCENT; ADULT; APGAR SCORE; ARX GENE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; DYSTONIA; EDGAR DOLL VINELAND SOCIAL MATURITY SCALE; ELECTROENCEPHALOGRAPHY; EXON; FOCAL DYSTONIA; GENE; GENE STRUCTURE; GENERALIZED DYSTONIA; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMEOBOX; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; LETTER; MALE; MISSENSE MUTATION; MUSCLE SPASM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; QUADRIPLEGIA; RATING SCALE; SCHOOL CHILD; SOCIAL ADAPTATION; TONIC CLONIC SEIZURE; WECHSLER INTELLIGENCE SCALE;

ADOLESCENT; ADULT; DYSTONIA; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLY A; PREGNANCY; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84879461974     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36003     Document Type: Letter

References (6)

1. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. 2010. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 31:1326-1342.
2. Eksioglu YZ, Pong AW, Takeoka M. 2011. A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females. Epilepsia 52:984-992.
3. Graff G, Obrdlik P, Yuan L, Loque D, Frommer WB, von Wiren N. 2011. N-terminal cysteines affect oligomer stability of the allosterically regulated ammonium transporter LeAMT1;1. J Exp Bot 62:1361-1373.
4. Sartori S, Polli R, Bettella E, Rossato S, Andreoli W, Vecchi M, Giordano L, Accorsi P, Di Rosa G, Toldo I, Zamponi N, Darra F, Dalla Bernardina B, Perilongo G, Boniver C, Murgia A. 2011. Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. J Child Neurol 26:683-691.
5. Shoubridge C, Fullston T, Gecz J. 2010. ARX spectrum disorders: Making inroads into the molecular pathology. Hum Mutat 31:889-900.
6. Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T. 2006. Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation. Neurology 67:2073-2075.