Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.

Pediatric Dermatology
Sandra R OskaJohn J DiGiovanna

Abstract

The availability of genomic sequencing for inherited diseases provides a more complete molecular basis for how an individual's genetic landscape influences clinical outcome. We describe a family where exome sequencing of a 3-year-old boy with clinical features of Cockayne syndrome (CS) confirmed the diagnosis of CS. He also had a mutation consistent with a pre-symptomatic second disease, multiple endocrine neoplasia type 1 (MEN1), each potentially affecting multiple organ systems, in addition to a poorly defined variant in fumarate hydratase (FH). Genomic sequencing may reveal coexisting pathogenic mutations and variants which complicate clinical interpretation.

References

Apr 16, 1998·The Journal of Investigative Dermatology·S PackT N Darling
Dec 12, 2001·The Journal of Clinical Endocrinology and Metabolism·M L BrandiS J Marx
Nov 10, 2006·Journal of Child Neurology·Isabelle RapinDennis W Dickson
Aug 4, 2009·Mechanisms of Ageing and Development·Karen M WeidenheimIsabelle Rapin
Jan 6, 2012·The Journal of Investigative Dermatology·John J DiGiovanna, Kenneth H Kraemer
Jun 23, 2012·The Journal of Clinical Endocrinology and Metabolism·Rajesh V ThakkerUNKNOWN Endocrine Society
Feb 23, 2013·Mechanisms of Ageing and Development·Vincent Laugel
Sep 24, 2013·American Journal of Human Genetics·Michael O DorschnerGail P Jarvik
Jan 17, 2015·The Journal of Clinical Endocrinology and Metabolism·P GoudetB Delemer
Jul 24, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Brian T WilsonIan J Wilson
Jan 12, 2016·The Journal of Clinical Endocrinology and Metabolism·Rachel S van LeeuwaardeGerlof D Valk
Oct 22, 2016·Ageing Research Reviews·Ajoy C KarikkinethVilhelm A Bohr
Dec 14, 2016·The New England Journal of Medicine·Jennifer E PoseyJames R Lupski
Oct 20, 2018·The Journal of Clinical Endocrinology and Metabolism·Pauline RomanetAnne Barlier
Feb 11, 2021·Nature Reviews. Endocrinology·Abdallah Al-SalamehPhilippe Chanson

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