Methods for diagnosing tuberous sclerosis by detecting mutation in the TSC-1 gene

A method of identifying a patient that has or is likely to develop tuberous sclerosis, said method comprising:

• a) determining if the TSC-1 gene of said patient contains a mutation when compared to SEQ ID NO:1, wherein said mutation occurs at a site selected from:
• I) in exon 7:
• position 865;
• ii) in exon 9:
• position 966;
• 970;
• 993;
• or 1112;
• iii) in exon 10:
• position 1207;
• iv) in exon 15:
• position 1746;
• 1750;
• 1801;
• 1892;
• 1929;
• 1942;
• 2009;
• 2041;
• 2060;
• 2105;
• 2122;
• 2126;
• or 2176;
• v) in exon 17:
• position 2295;
• 2324;
• 2332;
• or 2395;
• vi) in exon 18:
• position 2448;
• 2519;
• 2540;
• 2577;
• or 2583;
• vii) in exon 19:
• position 2691;
• viii) in exon 20:
• position 2724;
• or 2730;
• and
• b) concluding that said patient is at increased risk of having or developing tuberous sclerosis if said mutation is present.