Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.
hypoplastic left heart
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
29
01
2019
accepted:
28
03
2019
entrez:
5
6
2019
pubmed:
5
6
2019
medline:
27
5
2020
Statut:
epublish
Résumé
Jacobsen syndrome (OMIM #147791) is a rare contiguous gene disorder caused by deletions in distal 11q. The clinical phenotype is variable and can include dysmorphic features, varying degrees of intellectual disability, behavioral problems including autism and attention deficit hyperactivity disorder, congenital heart defects, structural kidney defects, genitourinary problems, immunodeficiency, and a bleeding disorder due to impaired platelet production and function. Previous studies combining both human and animal systems have implicated several disease-causing genes in distal 11q that contribute to the Jacobsen syndrome phenotype. One gene,
Identifiants
pubmed: 31160359
pii: mcs.a004010
doi: 10.1101/mcs.a004010
pmc: PMC6549550
pii:
doi:
Substances chimiques
ETS1 protein, human
0
Proto-Oncogene Protein c-ets-1
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHLBI NIH HHS
ID : UM1 HL098147
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098123
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098163
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098153
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL098162
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL098188
Pays : United States
Informations de copyright
© 2019 Tootleman et al.; Published by Cold Spring Harbor Laboratory Press.
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