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Novel mutation (G188R) in the G6Pase gene of a patient with glycogen storage disease type 1a

✍ Scribed by Pascale Trioche; Philippe Labrune; Michel Odièvre; Michelle Hedchouel; Jean-François Deleuze

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
286 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

Germline mutations in the BRCAl gene confer susceptibility to hereditary breast and ovarian cancer (Easton et al., 1993; Ford et al., 1994). We report a new mutation in the BRCAl gene in an Austrian hereditary breast and ovarian cancer (HBOC) family with four breast cancer cases and one ovarian cancer in three generations. The average age of onset for breast cancer was 36.5 years. Linkage analysis revealed a common haplotype for three breast cancer patients whose DNA was available for testing. The protein truncation test (FTT) (Hogervorst et al., 1995) indicated the presence of a stop codon in exon 11. Cycle sequencing of PCR products of exon 11 demonstrated a deletion of AAAG at position 2795 of the BRCAl sequence. This mutation (2795de14) results in a BRCAl protein truncated by 866 amino acids with 106 novel amino &ids at the C-terminus, the longest false reading frame reported to date.

Eleven family members and three spouses were analyzed by sequencing this particular region of exon 11. The mutation was present in all three cancer patients and five healthy individuals, including three young women, ages 24-30. The mutation cosegregated with the predicted haplotype, and in all eight cases the PTT was positive.

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