Table 1

Summary of genetic alterations of the Znfn1a1 gene in BLF, DLF, DLS, and PL

SamplesMutations in Znfn1a1 (n = 104)Deletions in Znfn1a1 (n = 68)LOH in chr. 11a (n = 45)Mutations in p53b
ExonNucleotideAmino acid
BLF
1+
54280delGframeshift (stop at codon 105)
7+N236S
8+C173F
94180C>GC60W+frameshift
10+H176L
125376C>TR126X+frameshift
14+
21+
DLF
1Exon 3–5+
3+
54296A>CD99A
6Exon 3–5
9+
14Exon 5, 7+
157785–786insAframeshift (stop at codon 281)
DLS
64223C>GR75G
291G>AR97R
104269T>CL90P
291G>AR97R
71245–1289del404–429del
124296A>CD99A
291G>AR97R
227800–801insGframeshift (stop at codon 281)
274291G>AR97R
294191G>CG64A
304291G>AR97R
344291G>AR97R
PL
27735–736insCframeshift (stop at codon 247)
  • a chr, chromosome; +, presence of LOH.

  • b Mutations of p53 have been analyzed previously (14) . Only mutations in the samples with LOH on chromosome 11 are presented.