[Familial hypobetalipoproteinemia: clinical characterization of a new mutation in the APOB gene].
OBJECTIVE
Familial hypobetalipoproteinemia (FHB) is usually due to mutations in the APOB gene. Almost 60 different mutations have been reported. We report a Spanish family with FHB phenotype and a new mutation.


METHODS
We performed an analytical, localizing and molecular study of the APOB gene in the proband and in two relatives phenotypically affected.


RESULTS
The proband was a 32-year-old woman with moderate to severe mental retardation, morbid obesity, hypocholesterolemia, hypertransaminasemia, and hepatic steatosis. The familial phenotypic study was positive in other 6 relatives. The genetic study confirmed the presence of a novel mutation (apoB-69.27) in the APOB gene. The proband, her mother and one maternal great aunt were heterozygote for that mutation.


CONCLUSIONS
FHB has a variable phenotypic expression that can range from oligosymptomatic disease to severe neurological damage.
Iglesias
Pedro
P
Servicio de Endocrinología, Hospital General, Segovia, España. piglo65@gmail.com
Díez
Juan J
JJ
Tarugi
Patrizia
P
D000328:Adult; D000368:Aged; D001055:Apolipoproteins B / Q000235:genetics*; D005260:Female; D006801:Humans; D052476:Hypobetalipoproteinemia, Familial, Apolipoprotein B / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
D001055:Apolipoproteins B