A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness

Pediatric Allergy and Immunology

Volumn 12, Issue 2, 2001, Pages 107-111

  Richter, Darko ^a,e   Conley, Mary Ellen ^b   Rohrer, Jurg ^b   Myers, Laurie A ^c   Zahradka, Katarina ^d   Ić, Jadranka Keleč ^a   Sertić, Jadranka ^a   Rukavina, Ana Stavljenić ^a  

^a KBC Zagreb   (Croatia)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SUVAG Polyclinic for the Rehabilitation of Speech and Hearing   (Croatia)

^e Department of Pediatrics ^*  (Croatia)

Author keywords

Contiguous deletion; Deafness dystonia protein; Pediatric; Sensorineural deafness; X linked agammaglobulinemia

Indexed keywords

DNA; PROTEIN TYROSINE KINASE;

AGAMMAGLOBULINEMIA; ARTICLE; CASE REPORT; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DYSTONIA; GENE DELETION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; IMMUNE DEFICIENCY; INFANT; MALE; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECURRENT INFECTION; SPEECH DEVELOPMENT; X CHROMOSOME LINKAGE;

3' UNTRANSLATED REGIONS; ADOLESCENT; AGAMMAGLOBULINEMIA; CHILD; GENE DELETION; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; PROTEIN-TYROSINE KINASES; PROTEINS; X CHROMOSOME;

EID: 0035048622     PISSN: 09056157     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-3038.2001.0129999107.x     Document Type: Article

References (15)

1. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases
2. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
3. The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia
4. Mutations in Btk in patients with presumed X-linked agammaglobulinemia
5. BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
6. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
7. Unusual mutations in Btk: An insertion, a duplication, an inversion, and four large deletions
8. Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22
9. A new X-linked recessive deafness syndrome with blindness, dys-tonia, fractures, and mental deficiency is linked to Xq22
10. Sex-linked deafness of a possibly new type
11. Jensen syndrome is allelic to Mohr-Tranebjaerg syndrome and both are caused by stop mutations in the DDP gene
12. Encephalomyelitis in primary hypogammaglobulinaemia
13. Human deafness dystonia syndrome is a mitochondrial disease
14. Mitochondria and dystonia: The movement disorder connection?
15. Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation