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Multiple independent gene disorders causing Bardet--Biedl syndrome, congenital hypothyroidism, and hearing loss in a single Indian consanguineous patient
  • +6
  • 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
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Dong Li
The Children's Hospital of Philadelphia Center for Applied Genomics
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Deborah Watson
The Children's Hospital of Philadelphia Center for Applied Genomics
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Elizabeth M. McCormick
Children's Hospital of Philadelphia Pediatrics Residency Program
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Lisa Elden
University of Pennsylvania Perelman School of Medicine
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Thomas Aleman
The Children's Hospital of Philadelphia Division of Ophthalmology
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Erin O'Neil
The Children's Hospital of Philadelphia Division of Ophthalmology
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Marni J. Falk
Children's Hospital of Philadelphia Pediatrics Residency Program
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Hakon Hakonarson
The Children's Hospital of Philadelphia Center for Applied Genomics

Corresponding Author:[email protected]

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Abstract

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 2023Submission Checks Completed
24 Feb 2023Assigned to Editor
25 Feb 2023Reviewer(s) Assigned
09 Mar 2023Review(s) Completed, Editorial Evaluation Pending
15 Mar 2023Editorial Decision: Revise Minor
16 Apr 20231st Revision Received