Abby is a 6-year-old girl with a severe yet undiagnosed disease. Abby and both parents have had their genomes sequenced. They need your help.
#9 by Colby MD
Fri Oct 02, 2015 7:37 am
- testing for Rett syndrome was negative
- Abbie and her mother both have a duplication of 16p11.2
- Abbie and her mother both have a 337C>T SNV in the POU1F1 gene
- Abbie and her father both have a 6656_6661delACCATC deletion in the CACNA1A gene
- Abbie and her both have a 2263G>A SNV in the KCNQ3 gene
- Abbie has a single R341W in the FAH gene (carrier of Fumarylacetoacetase Pseudodeficiency)
- Abbie has a single IVS 1, ds, +9277 (also known as +9349 relative to MET) in the RET gene (clinically associated with increased risk of Hirschsprung Disease)
#12 by Colby MD
Thu Nov 05, 2015 7:17 pm
A potential de novo disease-causing variant has been identified on Abbie's X chromosome. Additional information will be provided once this variant has been confirmed.
#15 by Colby MD
Fri Jun 10, 2016 10:45 pm
Please see the Announcement in Abbie's message board titled "**Pathologic variant identified in HNRNPH2 gene**"
* Variant in HNRNPH2 identified as likely cause of the disease.

* Information about physical characteristics of children with similar HNRNPH2 variants is also provided.

* Contact information for the lead investigator, Dr. Wendy Chung, is provided. All healthcare providers and researchers that may have a patient with a HNRNPH2 variant are encouraged to contact Dr. Chung.

* Contact information is provided for parents of children with an unknown illness similar to children who have changes in the HNRNPH2 gene. An online community is being formed to help. Contact [email protected] for additional information.

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