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Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1)... Letter to the Editor Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations To the Editor: Schwannomatosis is a form of neurofibromatosis that is characterized by the formation of multiple schwannomas without the vestibular involvement found in neurofibromatosis type 2. Familial schwannomatosis is characterized by widely variable expressivity and incomplete penetrance, making full ascertainment of families difficult (1). The SMARCB1 tumor suppressor gene, which lies in the familial schwannomatosis candidate region, has recently been found to harbor alterations in both familial and sporadic schwannomatosis patients (2,3,4,5). As would be expected, tumor material from these patients frequently shows loss of heterozygosity of the unaffected allele and retention of the affected, transmitted and mutation-bearing allele. In our own study of 19 schwannomatosis kindreds, we identified potentially causative constitutional alterations in 13 families. Interestingly, six of these were accounted for by two recurrent alterations (5). In addition, we identified a third alteration that was previously reported in a separate study (4). Because incomplete penetrance may mask a relationship between these families, we sought to determine whether these recurrent alterations represented independent events or whether the families harboring these mutations showed identity by descent as determined by haplotype analysis. Two http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Smith,; Boyd,; MacCollin,; Plotkin,
Clinical Genetics , Volume 75 (5) – May 1, 2009
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References (6)

Publisher
Wiley
Copyright
Journal compilation © 2009 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2009.01156.x
pmid
19320657
Publisher site
See Article on Publisher Site

Abstract

Letter to the Editor Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations To the Editor: Schwannomatosis is a form of neurofibromatosis that is characterized by the formation of multiple schwannomas without the vestibular involvement found in neurofibromatosis type 2. Familial schwannomatosis is characterized by widely variable expressivity and incomplete penetrance, making full ascertainment of families difficult (1). The SMARCB1 tumor suppressor gene, which lies in the familial schwannomatosis candidate region, has recently been found to harbor alterations in both familial and sporadic schwannomatosis patients (2,3,4,5). As would be expected, tumor material from these patients frequently shows loss of heterozygosity of the unaffected allele and retention of the affected, transmitted and mutation-bearing allele. In our own study of 19 schwannomatosis kindreds, we identified potentially causative constitutional alterations in 13 families. Interestingly, six of these were accounted for by two recurrent alterations (5). In addition, we identified a third alteration that was previously reported in a separate study (4). Because incomplete penetrance may mask a relationship between these families, we sought to determine whether these recurrent alterations represented independent events or whether the families harboring these mutations showed identity by descent as determined by haplotype analysis. Two

Journal

Clinical Genetics – Wiley

Published: May 1, 2009

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