A Natural History Study of hnRNP-related Disorders
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology, Autism |
| Therapuetic Areas: | Neurology, Psychiatry / Psychology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 9/29/2018 |
| Start Date: | June 13, 2018 |
| End Date: | April 2023 |
| Contact: | Jennifer M. Bain, MD, PhD |
| Email: | jb3634@cumc.columbia.edu |
| Phone: | 646-426-3876 |
The purpose of this study is to analyze patterns in individuals with hnRNP genetic variants,
including their neurological comorbidities, other medical problems and any treatment. The
investigators will maintain an ongoing database of medical data that is otherwise being
collected for routine medical care. The investigators will also collect data prospectively in
the form of questionnaires, neuropsychological assessments, motor assessments, and
electroencephalography to examine the landscape of deleterious variants in these genes.
including their neurological comorbidities, other medical problems and any treatment. The
investigators will maintain an ongoing database of medical data that is otherwise being
collected for routine medical care. The investigators will also collect data prospectively in
the form of questionnaires, neuropsychological assessments, motor assessments, and
electroencephalography to examine the landscape of deleterious variants in these genes.
Neurodevelopmental disorders are a group of disorders in which the development of the central
nervous system is disturbed. The genetic basis for many neurodevelopmental disorders has
continued to expand and a recent gene called HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein
H2, encoded by HNRNPH2) is one such gene that is associated with a common neurodevelopmental
disorder characterized by developmental delay, intellectual disability, autism and autistic
features, and tone abnormalities, among other multisystem problems.
The investigators will expand the genetic cohort to include any individual with a variant in
an hnRNP gene presenting with neurodevelopmental abnormalities. This is non-interventional
study that examines both data previously used in clinical practice and prospective data
collection in the form of questionnaires and assessments. The investigators will examine
patterns of initial presentation, patterns in neurological evaluations; neurological testing
including brain MRI and electroencephalography, and outcomes in individuals with a variant in
any hnRNP gene.
Genes of Focus:
hnRNPA1 hnRNPA2 hnRNPB1 hnRNPB2 hnRNPC2 hnRNPD hnRNPE1 hnRNPE2 hnRNPE3 hnRNPE4 hnRNPG hnRNPH1
hnRNP H2 hnRNPI hnRNPK hnRNPL hnRNPM hnRNPP hnRNPQ1 hnRNPQ2 hnRNPQ3 hnRNPR hnRNPU
nervous system is disturbed. The genetic basis for many neurodevelopmental disorders has
continued to expand and a recent gene called HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein
H2, encoded by HNRNPH2) is one such gene that is associated with a common neurodevelopmental
disorder characterized by developmental delay, intellectual disability, autism and autistic
features, and tone abnormalities, among other multisystem problems.
The investigators will expand the genetic cohort to include any individual with a variant in
an hnRNP gene presenting with neurodevelopmental abnormalities. This is non-interventional
study that examines both data previously used in clinical practice and prospective data
collection in the form of questionnaires and assessments. The investigators will examine
patterns of initial presentation, patterns in neurological evaluations; neurological testing
including brain MRI and electroencephalography, and outcomes in individuals with a variant in
any hnRNP gene.
Genes of Focus:
hnRNPA1 hnRNPA2 hnRNPB1 hnRNPB2 hnRNPC2 hnRNPD hnRNPE1 hnRNPE2 hnRNPE3 hnRNPE4 hnRNPG hnRNPH1
hnRNP H2 hnRNPI hnRNPK hnRNPL hnRNPM hnRNPP hnRNPQ1 hnRNPQ2 hnRNPQ3 hnRNPR hnRNPU
Inclusion Criteria:
- Individuals must have had whole genome/exome sequencing and have a confirmed variant
in any hnRNP gene.
Exclusion Criteria:
- Subjects who cannot provide genetic confirmation of a predicted deleterious variant in
any hnRNP gene.
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Columbia University Medical Center Situated on a 20-acre campus in Northern Manhattan and accounting for...
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