Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 717-720

  Goldblatt, Jack ^a   Hyatt, Jill ^a   Edwards, Caitlin ^b   Walpole, Ian ^a,b  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b EDITH COWAN UNIVERSITY   (Australia)

Author keywords

FBN1 mutation; Lipodystrophy; Progeroid features

Indexed keywords

ADULT; AMINO ACID SEQUENCE; ANAMNESIS; APGAR SCORE; APNEA; ARTICLE; BIRTH WEIGHT; BODY WEIGHT DISORDER; BRADYCARDIA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; EXON; EXOPHTHALMOS; EXTRACELLULAR MATRIX; FBN1 GENE; FRAMESHIFT MUTATION; FUNNEL CHEST; GENE; GENE DELETION; HETEROZYGOSITY; HUMAN; HYDROCEPHALUS; JAUNDICE; LENS SUBLUXATION; LIPODYSTROPHY; MALE; MARFAN SYNDROME; MARFANOID HYPERMOBILITY SYNDROME; MUTATIONAL ANALYSIS; MYOPIA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEOTIDE SEQUENCE; ORCHIDOPEXY; PHENOTYPE; PRIORITY JOURNAL; PROGERIA; PROTEIN PROTEIN INTERACTION; RETROGNATHIA; SEPTICEMIA; SEQUENCE HOMOLOGY; SKIN BRUISING; TERMINAL SEQUENCE;

3' FLANKING REGION; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; LIPODYSTROPHY; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; PHENOTYPE; SEQUENCE DELETION; YOUNG ADULT;

EID: 79953329358     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33906     Document Type: Article

References (1)

1. Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. 2010. Marfan syndrome with neonatal progeroid syndrome -like lipodystrophy associated with a novel frameshift mutation at the 3/terminus of the FBN1-gene. Am J Med Genet Part A 152A: 2749-2755.