Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.
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神经鞘瘤和恶性横纹肌样瘤的家族性发生与 SMARCB1 重复相关。
DOI：
10.1136/jmg.2008.060152
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发表时间：
2009-01
影响因子：
4
通讯作者：
Williams MS
中科院分区：
文献类型：
--
作者：
Swensen JJ;Keyser J;Coffin CM;Biegel JA;Viskochil DH;Williams MS
The role of germline and somatic SMARCB1 gene mutations in malignant rhabdoid tumour (MRT) predisposition is well known. Germline SMARCB1 mutations have also recently been identified in a subset of individuals with schwannomatosis. Surprisingly, MRT predisposition and schwannomatosis have never been reported to co-occur in a family. The correlation between genotype and phenotype for mutations in SMARCB1 has not been determined. We have identified a germline 2631 bp duplication that includes exon 6 of SMARCB1 in a unique family with a four generation history of MRT predisposition and schwannomatosis. This duplication segregates with disease in individuals affected with both conditions, linking MRT predisposition and schwannomatosis as components of the same syndrome in this family. The unique combination of tumours that result from the duplication described in this report may provide important clues about the mechanisms that influence the phenotype associated with a given SMARCB1 mutation.
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影响因子：
4.1
作者：
Rorke, LB;Packer, RJ;Biegel, JA
通讯作者：
Biegel, JA
影响因子：
5.3
作者：
Zhang, ZK;Davies, KP;Kalpana, GV
通讯作者：
Kalpana, GV
影响因子：
6.4
作者：
Patil, Sushama;Perry, Arie;Stemmer-Rachamimov, Anat O.
通讯作者：
Stemmer-Rachamimov, Anat O.
影响因子：
9.9
作者：
MacCollin, M;Chiocca, EA;Roach, ES
通讯作者：
Roach, ES
影响因子：
3.2
作者：
Janson, Kristin;Nedzi, Lucien A.;Biegel, Jaclyn A.
通讯作者：
Biegel, Jaclyn A.