Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Di Donato, N; Timms, Ae; Aldinger, Ka; Mirzaa, Gm; Bennett, Jt; Collins, S; Olds, C; Mei, D; Chiari, S; Carvill, G; Myers, Ct; Riviere, Jb; Zaki, Ms; University Od Washington Center For Mendelian Genomics,; Gleeson, Jg; Rump, A; Conti, V; Parrini, E; Ross, Me; Ledbetter, Dh; Guerrini, R; Dobyns, Wb

doi:10.1038/gim.2018.8

PurposeTo estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.MethodsWe collected DNA from 756 children with lissencephaly over 30 years. Many were tested for deletion 17p13.3 and mutations of LIS1, DCX, and ARX, but few other genes. Among those tested, 216 remained unsolved and were tested by a targeted panel of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN, and VLDLR) or by whole-exome sequencing.

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly / Di Donato N; Timms AE; Aldinger KA; Mirzaa GM; Bennett JT; Collins S; Olds C; Mei D; Chiari S; Carvill G;Myers CT; Riviere JB; Zaki MS; University od Washington Center for Mendelian Genomics; Gleeson JG; Rump A; Conti V; Parrini E; Ross ME; Ledbetter DH; Guerrini R; Dobyns WB. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - ELETTRONICO. - (2018), pp. 0-0. [10.1038/gim.2018.8]