# US 9,752,192 B2 · Compositions and methods for diagnosing autism

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- Number: US 9,752,192 B2
- Document ID: US9752192B2
- Status: Granted
- Kind: B2
- Application number: 13/790,309
- Filed: 2013-03-08
- Published: 2013-07-18
- Granted: 2017-09-05
- Earliest claimed: 2003-07-03
- Assignees: Rutgers, The State University of New Jersey
- Applicants: Rutgers, The State University of New Jersey
- Inventors: James H. Millonig; Linda Brzustowicz; Neda Gharani
- Web page: https://patentgrep.com/patent/US9752192B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES

## Abstract

Mutations located within the gene encoding the homeobox transcription factor, ENGRAILED 2 (EN2), have now been identified as molecular markers associated with susceptibility for autism and related disorders. Thus, the present invention relates to compositions in the form of diagnostic kits, primers and target sequences, for use in methods for determining the predisposition, the onset or the presence of autism spectrum disorder in a mammal. Moreover, therapeutic methods for treating a person inflicted with, or predisposed to, an autism spectrum disorder based upon modulating the level or activity of EN2 are also provided.

## Claims

### Claim 1

A diagnostic kit indicative of the predisposition for developing autism spectrum disorder in a human comprising:
one or more detectably labeled oligonucleotide probes 17 to 100 nucleotides in length which are perfectly complementary to a target sequence comprising a single nucleotide polymorphism in the ENGRAILED 2 intronic sequence of SEQ ID NO:11, wherein the single nucleotide polymorphism is an A at position 2236 of SEQ ID NO:11; and
one or more detectably labeled oligonucleotide probes 17 to 100 nucleotides in length which are perfectly complementary to a target sequence comprising a single nucleotide polymorphism in the ENGRAILED 2 intronic sequence of SEQ ID NO:11, wherein the single nucleotide polymorphism is a C at position 2388 of SEQ ID NO:11,
wherein said probes are detectably labeled with a radioactive element, a chemical which fluoresces or an enzyme.

### Claim 2 (depends on 1)

The diagnostic kit of claim 1 wherein the one or more detectably labeled oligonucleotide probes are 17 to 50 nucleotides in length.