Molecular genetic study of Japanese patients with X-linked α-thalassemia/mental retardation syndrome (ATR-X)

American Journal of Medical Genetics

Volumn 94, Issue 3, 2000, Pages 242-248

  Wada, Takahito ^a   Kubota, Takeo ^b   Fukushima, Yoshimitsu ^b   Saitoh, Shinji ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

thalassemia; ATRX; Chromatin remodeling; X linked mental retardation

Indexed keywords

HELICASE; TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ADOLESCENT; ADULT; ALPHA THALASSEMIA; AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; GENOTYPE; HUMAN; INFANT; JAPAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; X CHROMOSOME LINKED DISORDER;

ADULT; ALLELES; ALPHA-THALASSEMIA; CHILD; CHILD, PRESCHOOL; CHROMATIN; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; JAPAN; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SYNDROME; TRANSCRIPTION FACTORS; X CHROMOSOME; ZINC FINGERS;

EID: 0034684035     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000918)94:3<242::AID-AJMG11>3.0.CO;2-K     Document Type: Article

References (17)

1. Carpenter-Waziri syndrome results from a mutation in XNP
2. Germline and gonosomal mosaicism in the ATR-X syndrome
3. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
4. New mutations in XNP/ATR-X gene: A further contribution to genotype/phenotype relationship in ATR-X syndrome
5. Clinical and hematological aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)
6. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
7. Syndromal mental retardation due to mutations in a regulator of gene expression
8. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
9. A novel mutation in the putative DNA helicase XH2 is responsible for the male-to-female sex reversal associated with an atypical form of the ATR-X syndrome
10. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: Demonstration that the mutation is involved in the inactivation bias
11. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
12. ATRX encodes a novel member of the SNF2 family of proteins: Mutations point a common mechanism underlying the ATR-X syndrome
13. XNP mutation in a large family with Juberg-Marsidi syndrome
14. Splicing mutation in the ATR-X gene lead to a dysmorphic mental retardation phenotype without alpha-thalassemia
15. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia
16. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase
17. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome