Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
J Hum Genet
; 56(8): 577-82, 2011 Aug.
Article
en En
| MEDLINE
| ID: mdl-21753765
ABSTRACT
Patients with X-linked agammaglobulinemia (XLA) can present with sensorineural deafness. This can result from a gross deletion that not only involved the Bruton's tyrosine kinase (BTK) gene, but also TIMM8A, mutations in which underlie the Mohr-Tranebjærg syndrome (MTS). We analyzed the genomic break points observed in three XLA-MTS patients and compared these with deletions break points from XLA patients. Patient 1 had a 63-kb deletion with break points in intron 15 of BTK and 4 kb upstream of TAF7L. Patients 2 and 3 had 149.7 and 196 kb deletions comprising BTK, TIMM8A, TAF7L and DRP2. The break points in patients 1 and 3 were located in Alu and endogenous retrovirus (ERV) repeats, whereas the break points in patient 2 did not show involvement of transposable elements. Comparison of gross deletion sizes and involvement of transposable elements in XLA and XLA-MTS patients from the literature showed preferential involvement of Alu elements in smaller deletions (<10 kb). These results show further insights into the molecular mechanisms underlying gross deletions in patients with primary immunodeficiency.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
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Proteínas Tirosina Quinasas
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Deleción Cromosómica
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Cromosomas Humanos X
Límite:
Adolescent
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Child
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Humans
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Infant
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Male
Idioma:
En
Revista:
J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Japón