Table 1

NF1 pedigrees used in the study.

Sample

Sex

Age

NF1-status

Set

Family ID

Sample ID

Mutation


1-A

F

47

Affected

Coriell-18

2176

GM09534

c.3739_3742del

3-A

F

55

Affected

Coriell-18

2176

GM09616

c.3739_3742del

5-A

M

26

Affected

Coriell-18

2176

GM09619

c.3739_3742del

8-A

F

52

Affected

Coriell-18

2176

GM09627

c.3739_3742del

9-A

M

41

Affected

Coriell-18

2176

GM09628

c.3739_3742del

13-A

F

16

Affected

Coriell-18

2176

GM09633

c.3739_3742del

14-A

M

15

Affected

Coriell-18

2176

GM09634

c.3739_3742del

23-A

M

N.A.

Affected

Coriell-18

2176

GM09692

c.3739_3742del

24-A

M

51

Affected

Coriell-18

2176

GM09693

c.3739_3742del

4-U

F

28

Unaffected

Coriell-18

2176

GM09617

N.D.

6-U

M

67

Unaffected

Coriell-18

2176

GM09625

N.D.

10-U

M

32

Unaffected

Coriell-18

2176

GM09630

N.D.

12-U

F

33

Unaffected

Coriell-18

2176

GM09632

N.D.

15-U

M

35

Unaffected

Coriell-18

2176

GM09635

N.D.

16-U

F

29

Unaffected

Coriell-18

2176

GM09638

N.D.

19-U

M

38

Unaffected

Coriell-18

2176

GM09651

N.D.

20-U

F

39

Unaffected

Coriell-18

2176

GM09652

N.D.

21-U

M

N.A.

Unaffected

Coriell-18

2176

GM09688

N.D.

E1-A

M

37

Affected

ECACC-6

P0117

89082417

c.1261-2_1261-10del

E6-A

M

33

Affected

ECACC-6

P0117

89082422

c.1261-2_1261-10del

E10-A

F

40

Affected

ECACC-6

P0117

89082426

c.1261-2_1261-10del

E2-U

F

34

Unaffected

ECACC-6

P0117

89082418

N.D.

E7-U

M

41

Unaffected

ECACC-6

P0117

89082423

N.D.

E11-U

M

31

Unaffected

ECACC-6

P0117

89082427

N.D.


EBV-transformed lymphoblastoid cell lines (LCL) from two kindreds, Coriell-18 and ECACC-6, were obtained from Coriell and ECACC cell repositories, respectively. NF1-affected members of Coriell-18 set have a 4 bp deletion (5'-TTTG-3') in exon 22 of NF1, which is predicted to result in a premature stop codon. NF1-affected members of ECACC-6 set have a 9 bp deletion (5'-TTTTCTCTA-3') in intron 9 of NF1, which is predicted to disrupt the acceptor splice site of exon 10a, leading to exon skipping during mRNA splicing. Both mutations are predicted to be pathogenic. Mutations are described with nucleotide 1 being the A of the ATG translation initiation codon in the sequence NM_000267. Coriell and ECACC Family and Sample IDs for the cell lines are indicated in respective columns. Information for NF1-affected individuals is distinguished in boldface. N.A. - data not available; N.D. - not detected.

Pemov et al. BMC Genomics 2010 11:194   doi:10.1186/1471-2164-11-194

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