PMID- 34105807
OWN - NLM
STAT- MEDLINE
DCOM- 20210831
LR  - 20230824
IS  - 1525-1470 (Electronic)
IS  - 0736-8046 (Print)
IS  - 0736-8046 (Linking)
VI  - 38
IP  - 4
DP  - 2021 Jul
TI  - Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our 
      view of the genetic landscape.
PG  - 913-918
LID - 10.1111/pde.14655 [doi]
AB  - 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.
CI  - (c) 2021 Wiley Periodicals LLC.
FAU - Oska, Sandra R
AU  - Oska SR
AUID- ORCID: 0000-0002-5659-2864
AD  - Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National 
      Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Tamura, Deborah
AU  - Tamura D
AUID- ORCID: 0000-0003-4812-5622
AD  - Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National 
      Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Blau, Jenny E
AU  - Blau JE
AUID- ORCID: 0000-0002-6725-4262
AD  - Metabolic Diseases Branch, National Institute of Diabetes and Digestive and 
      Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
FAU - Khan, Sikandar G
AU  - Khan SG
AUID- ORCID: 0000-0001-9957-4132
AD  - Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National 
      Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - Kraemer, Kenneth H
AU  - Kraemer KH
AUID- ORCID: 0000-0002-2689-3316
AD  - Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National 
      Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
FAU - DiGiovanna, John J
AU  - DiGiovanna JJ
AUID- ORCID: 0000-0002-2750-2313
AD  - Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National 
      Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
LA  - eng
GR  - ZIA BC004517/ImNIH/Intramural NIH HHS/United States
GR  - Z01 BC004517/ImNIH/Intramural NIH HHS/United States
GR  - Z99 CA999999/ImNIH/Intramural NIH HHS/United States
PT  - Case Reports
DEP - 20210608
PL  - United States
TA  - Pediatr Dermatol
JT  - Pediatric dermatology
JID - 8406799
SB  - IM
MH  - Child, Preschool
MH  - *Cockayne Syndrome/diagnosis/genetics
MH  - Exome/genetics
MH  - Genomics
MH  - Humans
MH  - Male
MH  - *Multiple Endocrine Neoplasia Type 1/genetics
MH  - Mutation
MH  - Pedigree
MH  - Exome Sequencing
PMC - PMC10445432
MID - NIHMS1919631
OTO - NOTNLM
OT  - Cockayne Syndrome
OT  - DNA repair
OT  - MEN1
OT  - exome sequencing
OT  - genodermatosis
COIS- CONFLICT OF INTEREST The authors state no conflict of interest. All authors 
      consent to this publication. The parents of the patient have provided informed 
      consent for the participation of their family members in this study and for the 
      use of the image of their child in a medical publication. JEB is a full time 
      employee of AstraZeneca.
EDAT- 2021/06/10 06:00
MHDA- 2021/09/01 06:00
PMCR- 2023/08/23
CRDT- 2021/06/09 08:54
PHST- 2021/06/10 06:00 [pubmed]
PHST- 2021/09/01 06:00 [medline]
PHST- 2021/06/09 08:54 [entrez]
PHST- 2023/08/23 00:00 [pmc-release]
AID - 10.1111/pde.14655 [doi]
PST - ppublish
SO  - Pediatr Dermatol. 2021 Jul;38(4):913-918. doi: 10.1111/pde.14655. Epub 2021 Jun 
      8.