Multiple independent gene disorders causing Bardet--Biedl syndrome,
congenital hypothyroidism, and hearing loss in a single Indian
consanguineous patient
- Isabella Barcelos
, - Dong Li,
- Deborah Watson,
- Elizabeth M. McCormick,
- Lisa Elden,
- Thomas Aleman,
- Erin O'Neil,
- Marni J. Falk,
- Hakon Hakonarson
Isabella Barcelos
The Children's Hospital of Philadelphia Center for Applied Genomics
Author ProfileDong Li
The Children's Hospital of Philadelphia Center for Applied Genomics
Author ProfileDeborah Watson
The Children's Hospital of Philadelphia Center for Applied Genomics
Author ProfileElizabeth M. McCormick
Children's Hospital of Philadelphia Pediatrics Residency Program
Author ProfileLisa Elden
University of Pennsylvania Perelman School of Medicine
Author ProfileThomas Aleman
The Children's Hospital of Philadelphia Division of Ophthalmology
Author ProfileErin O'Neil
The Children's Hospital of Philadelphia Division of Ophthalmology
Author ProfileMarni J. Falk
Children's Hospital of Philadelphia Pediatrics Residency Program
Author ProfileAbstract
We report a 20-year-old female, adopted Indian patient with over 662 Mb
regions of homozygosity who presented with variants associated with
symptoms in BBS6, STRC, and DUOX2 genes. And a VUS in the TNNT2 gene, so
far without clinical correlation. Symptoms are not explained by only one
gene.06 Feb 2023Submitted to Clinical Case Reports 24 Feb 2023Assigned to Editor
24 Feb 2023Submission Checks Completed
25 Feb 2023Reviewer(s) Assigned
09 Mar 2023Review(s) Completed, Editorial Evaluation Pending
15 Mar 2023Editorial Decision: Revise Minor
16 Apr 20231st Revision Received
