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Methods for diagnosing autism spectrum disorders

  • US 10,655,178 B2
  • Filed: 11/30/2017
  • Issued: 05/19/2020
  • Est. Priority Date: 09/08/2009
  • Status: Active Grant
First Claim
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1. A method for detecting a mutation associated with the presence or an increased risk of developing an autism spectrum disorder in a subject, the method comprising:

  • obtaining a nucleic acid from a tissue or body fluid sample from a subject; and

    conducting an assay to identify whether there is at least one of a TSC1 or a TSC2 variant sequence in the subject'"'"'s nucleic acid;

    (i) wherein for TSC1 the variant sequences comprise at least one of;

    c.346T>

    G, Leu116Val;

    c.935A>

    C, Tyr312Ser;

    c.1006C>

    T, Arg336Trp;

    c.1178C>

    T, Thr393Ile;

    c.1523A>

    C, Tyr508Ser;

    c.1559A>

    C, His520Pro;

    c.1580A>

    G, Gln527Arg;

    c.1608A>

    C, Leu536Phe;

    c.1610A>

    C, His537Pro;

    c.1683T>

    G, Ser561Arg;

    c.1781T>

    G, Val594Gly;

    c.1799A>

    C, Gln600Pro;

    c.1829T>

    G, Val610Gly;

    c.1843A>

    C, Thr615Pro;

    c.1844C>

    A, Thr615Lys;

    c.1917T>

    G, Gly639Gly;

    c.1943T>

    G, Val648Gly;

    c.1958T>

    G, Ile653Arg;

    c.1960C>

    A, Gln654Lys;

    c.1960C>

    G, Gln654Glu;

    c.1963C>

    A, Gln655Lys;

    c.1997+2T>

    G (splice site);

    c.2194C>

    T, His732Tyr;

    c.2865C>

    T, Thr955Thr;

    c.3042C>

    T, His1014His;

    c.3059C>

    T, Thr1020Ile;

    c.3102T>

    G, Gly1034Gly;

    or c.3105T>

    G, Gly1035Gly; and

    (ii) wherein for TSC2 the variant sequences comprise at least one of;

    c.275A>

    T, Glu92Val;

    c.433G>

    A, Ala145Thr;

    c.649-5A>

    C, (intronic);

    c.736A>

    C, Thr246Pro;

    c.796A>

    C, Thr266Pro;

    c.848+15T>

    G, (intronic);

    c.1292C>

    T, Ala431Val;

    c.1875A>

    C, Ser625Ser;

    c.3126G>

    T, Pro1042Pro;

    c.3299T>

    G, Val1100Gly;

    c.3778A>

    C, Thr1260Pro;

    c.3827C>

    T, Ser1276Phe;

    c.3914C>

    T, Pro1305Leu;

    c.3986G>

    A, Arg1329His;

    c.4006-8C>

    T, (intronic);

    c.4051G>

    A, Glu1351Lys;

    c.4269G>

    A, Leu1423Leu;

    c.4285G>

    T, Ala1429Ser;

    c.4990-7C>

    T, (intronic);

    c.5028G>

    A, Leu1676Leu;

    c.5069-8C>

    T, (intronic);

    c.5359G>

    A, Gly1787Ser;

    or c.5429G>

    A, (3′

    UTR).

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