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AJMA_33894_sm_eFig-1.doc271KeFigure 1: a) MLPA showing deletion of 5 probes (13048-L14231, 13050-L14233, 11013-L13179, 13053-L14236, 13056-L14239 in product size order, left to right) corresponding to exon 1, part of intron 1 and promoter of SPRED1 in the proband of Family 1 (probe nomenclature as described in eTable I). b) MLPA showing deletion of all 23 SPRED1 probes (probe nomenclature as described in eTable I) in the proband of Family 2. c) MLPA showing deletion of all 23 SPRED1 probes (probe nomenclature as described in eTable I) in the proband of Family 4. Deleted probes are red, non-deleted SPRED1 probes are green, and reference probes with 2 copies are blue.
AJMA_33894_sm_eFig-2.doc541KeFigure 2: a) RT-PCR of SPRED1 coding region. Lanes 1, 3, and 4 represent normal controls. Lane 2 shows amplification of normal allele and amplification of the shorter deleted allele for the proband of Family 3. Lane 5 contains water instead of DNA (no product). Lane M contains 1kb DNA ladder (Promega). b) MLPA result showing deletion of probes 13044-L14227, 13045-L14228, 13046-L14229, 13047-L14230, 11017-L11686, 13049-L14232, 11015-L11684, 11019-L11688, 11016-L11685, 13051-L14234, 13052-L14235, 11018-L11687, 13054-L14237, 13057-L14240, 13058-L1424, in order of product size, left to right, representing the region spanning from intron 1 to intron 6 in the proband of Family 3 (probe nomenclature as described in eTable I, probe coloration as described in eFigure1). c) Sequencing results showing the break point of the deletion from intron 1 to intron 6 in the proband of Family 3. Black text indicates sequence observed in the proband of Family 3, grey text indicates sequence that has been deleted.
AJMA_33894_sm_eTable-I.doc39KeTable I: SPRED1 SALSA MLPA probe length, probe name, area of interrogation, ligation site, partial probe sequence, and distance to next probe as provided by MRC Holland. Reference probes located at other loci outside of SPRED1 were used and are available at www.mlpa.com
AJMA_33894_sm_eTable-II.doc28KeTable II: PCR primers used to characterize breakpoints of SPRED1 exon 2-6 deletion.
AJMA_33894_sm_eTable-III.doc56KeTable III: 36 SPRED1 mutations identified in this cohort of 510 NF1-negative individuals with multiple CALMs with or without freckling but no other NF1-related features.

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