TABLE 2. Molecular and Immunoblot Analysis Results



Family numbera REP1results Exon Mutationb EĦect ofmutation



11 REP1 (-) 1 47delC L6fsX11


70 NC Intron1 79+1G>A Aberrant splicing


98 nd Intron 2 146+1G>A Aberrant splicing


33 REP1(-) 3 160G>T G44X


28 REP1(?) 5 345de1TCAG R105fsX124


12 REP1(-) 5 555__556delAG K177fsX182 22 REP1(-) 5 K177fsX182


5 NC 5 559delG K177fsX196


35c NC 5 579__587del9ins8 E183fsX196


101 nd 5 599C>G S190X


58 nd 5 682__685delTCAC K218fsX230


79 NC 6 745C>T R239X


61 nd 6 756__757delAAinsT L243fsX246


9 REP1(-) 6 787C>T R253X


6 798delG D256fsX290 2 REP1(-)


6 829C>T R267X 48 nd


6 838C>T R270X 24d REP1(-)


7 907C>T R293X 93 nd


7 934delT V302fsX324


59 NC Intron 7 970+1G>T Aberrant splicing


90 nd 8 1009delC K327fsX329


88 nd 8 1049C>A S340X


53 REP1(-) 9 1248C>A" C406X


6 nd Intron9 1274+1G>A Aberrant splicing


117 nd Exon10 1319delA G430fsX457


46 NC Intron10 1379+2_+3insGGT Aberrant splicing 45c REP1(-)


Intron10 1380-6T>G EX11de1 (R450fsX454) 13e REP1(-)


Intron10 1380-1G>A EX11de1 (R450fsX454)


17 REP1(-) 11 1393delG Q455fsX457 72 REP1(-)


13 1542T>A Y504X 96 nd


13 1614__1618delTGTT H529fsX535 99 nd


13 1633G>T E535X 4 NC


14 1693A>T R555X 1e REP1(-) 1 Upstreamand EX Absent CHM transcript



*Note: the repititions have been removed.





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