15q13.3 microdeletion syndrome

Title

Other Names:

Chromosome 15q13.3 deletion syndrome; Microdeletion 15q13.3 syndrome; Chromosome 15q13.3 microdeletion syndrome; Chromosome 15q13.3 deletion syndrome; Microdeletion 15q13.3 syndrome; Chromosome 15q13.3 microdeletion syndrome; 15q13.3 microdeletion See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

15q13.3 microdeletion syndrome is a genetic disorder caused by a deletion of several genes on chromosome 15. When a syndrome is caused by the deletion of several genes, it is also known as a microdeletion syndrome or a contiguous gene deletion syndrome. Individuals with 15q13.3 microdeletion syndrome may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition.^[1]^[2] 15q13.3 microdeletion syndrome is caused by a deletion on the long arm of chromosome 15 that spans at least 7 genes and usually includes the CHRNA7 gene.^[3]It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion.^[1] Treatment typically focuses on individual signs and symptoms when possible.^[4]

Last updated: 4/18/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal facial shape	Frequent (present in 30%-79% of cases)
Intellectual disability	Frequent (present in 30%-79% of cases)
Abnormality of cardiovascular system morphology	Occasional (present in 5%-29% of cases)
Attention deficit hyperactivity disorder	Occasional (present in 5%-29% of cases)
Autism	Occasional (present in 5%-29% of cases)
Bipolar affective disorder	Occasional (present in 5%-29% of cases)
Clinodactyly of the 5th finger	Occasional (present in 5%-29% of cases)
Downslanted palpebral fissures	Occasional (present in 5%-29% of cases)
Epicanthus	Occasional (present in 5%-29% of cases)
Frontal bossing	Occasional (present in 5%-29% of cases)
Macrocephaly	Occasional (present in 5%-29% of cases)
Macrotia	Occasional (present in 5%-29% of cases)
Melanocytic nevus	Occasional (present in 5%-29% of cases)
Microcephaly	Occasional (present in 5%-29% of cases)
Muscular hypotonia	Occasional (present in 5%-29% of cases)
Prominent nasal tip	Occasional (present in 5%-29% of cases)
Protruding ear	Occasional (present in 5%-29% of cases)
Schizophrenia	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Strabismus	Occasional (present in 5%-29% of cases)
Abnormality of the palpebral fissures	Very rare (present in 1%-4% of cases)
Abnormality of the pinna	Very rare (present in 1%-4% of cases)
Behavioral abnormality	Very rare (present in 1%-4% of cases)
Brachydactyly	Very rare (present in 1%-4% of cases)
Hypertelorism	Very rare (present in 1%-4% of cases)
Incomplete penetrance	Very rare (present in 1%-4% of cases)
Intellectual disability, mild	Very rare (present in 1%-4% of cases)
Intellectual disability, moderate	Very rare (present in 1%-4% of cases)
Intellectual disability, severe	Very rare (present in 1%-4% of cases)
Specific learning disability	Very rare (present in 1%-4% of cases)
Synophrys	Very rare (present in 1%-4% of cases)
Autosomal dominant inheritance	-
Phenotypic variability	-

Last updated: 10/1/2017

Diagnosis Diagnosis

Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals who are interested in learning more should work with a health care provider or a genetics professional. Click here for a list of online resources for locating a genetics professional near you.

Last updated: 12/20/2010

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

15q13.3 research project
Bregje W.M. van Bon, MD, PhD
Radboud University Medical Center
Department of Human Genetics, 836
Postbox 9101
6500 HB Nijmegen the Netherlands

E-mail: bregje.vanbon@radboudumc.nl
Website: http://www.15q13.com/en/index.php
The 15q13.3 research project is based out of the Department of Human Genetics at Radboud University Medical Centre. Their goal is to collect clinical data on individuals with 15q13.3 deletions to gain more understanding of the variability in the clinical spectrum associated with the deletion.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Epilepsy Society
135 South LaSalle Street
Suite 2850
Chicago, IL 60603
Telephone: +1-312-883-3800
Fax: +1-312-896-5784
E-mail: info@aesnet.org
Website: https://www.aesnet.org/
Chromosome Disorder Outreach
PO Box 724
Boca Raton, FL 33429
Telephone: 561-395-4252
E-mail: info@chromodisorder.org
Website: http://www.chromodisorder.org
Epilepsy Foundation
8301 Professional Place East
Suite 200
Landover, MD 20785
Toll-free: 800-EFA-1000 (800-332-1000)
Telephone: 301-459-3700
Fax: 301-577-4941
E-mail: contactus@efa.org
Website: http://www.epilepsy.com
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: http://www.rarechromo.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on 15q13.3 microdeletion syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 15q13.3 microdeletion syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on 15q13.3 microdeletion syndrome.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss 15q13.3 microdeletion syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

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GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My daughter was diagnosed with 15q13.3 microdeletion syndrome. Her father was also diagnosed with this condition, but her siblings have not been tested. Her paternal uncle has dyslexia and her paternal grandmother has seizures. How rare is this condition? Would it be beneficial for my husband's family members or my daughter's siblings to be tested? See answer

Have a question? Contact a GARD Information Specialist.

References References

Victor A. McKusick. CHROMOSOME 15q13.3 DELETION SYNDROME. In: Ada Hamosh. OMIM. 5/26/2015; http://www.ncbi.nlm.nih.gov/omim/612001.
Hassfurther A., Komini E., Fischer J., Leipoldt M.. Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome. Mol Syndromol. Feb 2016; 6(5):222-228. http://www.ncbi.nlm.nih.gov/pubmed/26997942.
15q13.3 microdeletion syndrome. Unique: Rare Chromosome Disorder Support Group. 2013; http://www.rarechromo.org/information/Chromosome%2015/15q13.3%20microdeletion%20syndrome%20FTNW.pdf.
Bregje WM van Bon, Heather C Mefford, Bert BA de Vries. 15q13.3 Microdeletion. GeneReviews. July 23, 2015; http://www.ncbi.nlm.nih.gov/books/NBK50780/.