Unusual Mutations in Btk: An Insertion, a Duplication, an Inversion, and Four Large Deletions

Rohrer, Jurg; Minegishi, Yoshiyuki; Richter, Darko; Eguiguren, Jose; Conley, Mary Ellen

doi:10.1006/clim.1998.4629

Cited by 69 publications

(53 citation statements)

References 36 publications

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“…Thus, two of the three break point regions of the XLA-MTS patients we studied showed involvement of transposable elements. Although six out of eight break points of BTK deletions were found to be located in an Alu element in previous studies, 14,16,17 we observed Alu element involvement only in patient 1.…”

Section: Array Cgh Analysiscontrasting

confidence: 67%

“…Besides deletions, Alu-mediated recombination may also promote genomic duplications in BTK, depending on how the break points are joined. 16 The 5¢ and 3¢ break points in patient 1 were located in Alu elements, similar to most XLA patients with gross deletions affecting the BTK gene. 14,16,17 The break points of patients 2 and 3, however, were not located in Alu elements, and, intriguingly, the homology regions were very small repeat fragments of only 3 or 5 bp nucleotides, implying that the deletion was not due to an unequal homologous recombination.…”

Section: Discussionmentioning

confidence: 60%

“…BTK mutation analysis PCR analysis of genomic DNA resulted in the amplification of BTK exons 1-15, but not of exons [16][17][18][19] in patient 1, and amplifications of exons 1-5, but not of exons 6-19 in patient 2.…”

Section: Resultsmentioning

confidence: 99%

“…[8][9][10] Of these, only three break point junctions have been cloned. 14,16 In this study, we describe three patients with 63, 150 and 196 kb large deletions at the Xq22 region, which included BTK and TIMM8A.…”

Section: Discussionmentioning

confidence: 99%

“…To study whether gross deletions resulting in XLA or XLA-MTS are derived from similar deletion mechanisms, we analyzed all reported gross deletions in XLA and XLA-MTS patients ( Figure 5). 9,14,16,17 Including our patients, we collected data from five XLA and six XLA-MTS deletions. The deletion size clearly differed: XLA-MTS patients, as expected, had much larger disease-causing deletions.…”

Section: Array Cgh Analysismentioning

confidence: 99%

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Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

et al. 2011

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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 MohrTranebjaerg 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 (o10 kb). These results show further insights into the molecular mechanisms underlying gross deletions in patients with primary immunodeficiency.

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Section: Array Cgh Analysiscontrasting

confidence: 67%

Section: Discussionmentioning

confidence: 60%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Array Cgh Analysismentioning

confidence: 99%

See 3 more Smart Citations

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

et al. 2011

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BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations

et al. 2000

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Molecular analysis of Bruton’s tyrosine kinase gene in Spain

et al. 2001

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Mutations in Bruton's tyrosine kinase (BTK) gene result in X linked agammaglobulinemia (XLA). Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing 21 mutations were found in 27 patients with an XLA phenotype from 21 unrelated families. We identified 13 novel and 8 known mutations: seven missense (R288W, R544G, P566S, K430E; K374N, L512P, R544S), 5 nonsense (Q196X, Y361X, L249X, Q612X, Q466X), 2 deletions of one nucleotide (A207fsX216, Q612fsX648), 2 deletion-insertions (V219fsX227, K218fsX228), one insertion of two nucleotides (S572fsX587) and 4 point mutations in donor/acceptor splice sites (g.IVS1+1G>C, g.IVS6+5G>A, g.IVS10+1G>T, g.IVS13-1GG>CT). Carrier detection was performed in 18 mothers. Only in one case the mutation was found to be de novo. Additionally, BTK mutations were not found in four patients without family history, but with XLA-compatible phenotype. Hum Mutat 18:84, 2001.

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Unusual Mutations in Btk: An Insertion, a Duplication, an Inversion, and Four Large Deletions

Cited by 69 publications

References 36 publications

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations

Molecular analysis of Bruton’s tyrosine kinase gene in Spain

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