Article
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Nature genetics - 1 Feb 2014
Piotrowski Arkadiusz, Xie Jing, Liu Ying F, Poplawski Andrzej B, Gomes Alicia R, Madanecki Piotr, Fu Chuanhua, Crowley Michael R, Crossman David K, Armstrong Linlea, Babovic-Vuksanovic Dusica, Bergner Amanda, Blakeley Jaishri O, Blumenthal Andrea L, Daniels Molly S, Feit Howard, Gardner Kathy, Hurst Stephanie, Kobelka Christine, Lee Chung, Nagy Rebecca, Rauen Katherine A, Slopis John M, Suwannarat Pim, Westman Judith A, Zanko Andrea, Korf Bruce R, Messiaen Ludwine M
Abstract excerpt
Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and <10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of the other NF2 allele in every schwannoma but no mutation of the...
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