A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.
Marfan syndrome in the neonatal age represents a severe early and commonly lethal manifestation of Marfan syndrome, which is caused by mutations in the gene encoding fibrillin-1 (FBN1). Here, we report a newborn with severe Marfan syndrome and a novel mutation involving cysteine substitution within one of the epidermal growth factor-like domains of FBN1.
Kochilas
L
L
Department of Pediatrics, Division of Pediatric Cardiology, Hasbro Children's Hospital, Providence, RI, USA. Lazaros_Kochilas@brown.edu
Gundogan
F
F
Atalay
M
M
Bliss
J M
JM
Vatta
M
M
Pena
L S
LS
Abuelo
D
D
D017809:Fatal Outcome; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines