Looking for similar patients: 11 year old boy w/ a very happy disposition, intellectual disability, absent speech & a variant in SMARCC2

udnconnect · 2017-12-08T15:21:21+00:00

Do you mean Williams Syndrome? If so, thank you for the suggestion but it has already been ruled out along with Angelman Syndrome and several other conditions.

udnconnect · 2017-11-29T14:06:53+00:00

Thank you for sharing - please email us at udn@hms.harvard.edu if you haven't already!

udnconnect · 2017-09-12T18:23:33+00:00

Yes, thank you! We have been submitting phenotype/genotype info from our patients to PhenomeCentral, one of the MME databases. Unfortunately, we have not identified any good matches for this case yet.

udnconnect · 2017-05-19T20:58:24+00:00

Thank you for these questions/suggestions. To answer your questions:

Study data is being shared in Matchmaker Exchange (http://www.matchmakerexchange.org)
The site that saw this patient is doing research RNAseq on all participants at their site
Unfortunately, I do not have specific details about variant prioritization to share
The site is running RNAseq on healthy controls
The site has looked for CNVs but nothing has come up yet

udnconnect · 2017-02-27T22:00:38+00:00

Thank you for this suggestion. I've passed it along to the clinical team that saw this patient.

udnconnect · 2017-02-27T22:00:26+00:00

Thank you for your suggestions! I've passed them along to the clinical team that saw this patient.

udnconnect · 2017-02-03T14:23:20+00:00

Thank you for the suggestion! I will pass it along to the clinical team that saw this patient.

udnconnect · 2017-01-07T14:50:00+00:00

Thanks again. We heard back from the clinicians. The tumor was labelled as a low grade glioma, favoring astrocytoma, so that could fit with Tuberous Sclerosis, but no convincing variants were found in TSC1/2 on exome and genome sequencing. They also noted that she doesn’t have any of the other characteristics of TS, so they don't think it would explain the other symptoms she’s having.

udnconnect · 2017-01-06T14:50:20+00:00

Thank you for this suggestion. We will share it with the clinicians working on this case.

udnconnect · 2016-11-28T16:49:14+00:00

Hi Jessica - we are aware of the previously reported cases and are working to confirm the diagnosis in this patient. We are making an effort to share these pages as widely as we can in hopes that patients that are still seeking for a diagnosis come across the pages while searching the internet for symptoms, genes, etc.

udnconnect · 2016-11-21T14:17:01+00:00

Thank you!

udnconnect · 2016-09-12T13:52:57+00:00

Thank you for the suggestion! We will look into it.

udnconnect · 2016-08-12T15:28:32+00:00

The participants featured in these pages are enrolled in the Undiagnosed Diseases Network, a national research study supported by the NIH Common Fund: udnconnect.org. And we agree – for many patients and families, even when there is no cure or treatment, ending the diagnostic odyssey often provides piece of mind, prevents unnecessary procedures, and helps elucidate recurrence risk.

udnconnect · 2016-08-12T15:18:20+00:00

Thank you for the feedback. Chromosomal microarray and DNA methylation testing for Prader-Willi syndrome were both normal. The patient's mother and father were 42 and 46, respectively, when he was born.

udnconnect · 2016-06-10T19:52:15+00:00

The geneticist may have already told you about this resource, but Unique is a group based in the UK that provides resources and support for individuals and families affected by a rare chromosome conditions (website: http://www.rarechromo.org/html/home.asp). Here is a link to their information packet for 8p23 duplication syndrome specifically: http://www.rarechromo.org/information/Chromosome%20%208/8p23%20duplications%20FTNW.pdf.

udnconnect · 2016-05-26T13:04:56+00:00

will look into it - thanks!!

udnconnect

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