Tangier disease phenotype diversity in dizygous twin sisters.
BACKGROUND
Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1). Mutations of ABCA1 lead to a defect in cellular cholesterol removal and to deposition of cholesterol esters throughout the body.


METHODS
We report here on the case of a 53-year-old woman with a severe phenotype of TD. The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia.


CONCLUSIONS
This family demonstrates the wide intrafamilial phenotype diversity of TD.
Pichit
P
P
Service de neurologie, Inserm U614, CHU de Rouen, 1, rue de Germont, 76031 Rouen cedex, France.
Quillard
M
M
Couvert
P
P
Sénant
J
J
Carrié
A
A
Bittar
R
R
Hannequin
D
D
Guyant-Maréchal
L
L
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D001706:Biopsy; D003711:Demyelinating Diseases / Q000473:pathology; D004562:Electrocardiography; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D008055:Lipids / Q000097:blood; D008875:Middle Aged; D009412:Nerve Fibers / Q000473:pathology; D010641:Phenotype; D012583:Schwann Cells / Q000473:pathology; D011984:Sensory Receptor Cells / Q000473:pathology; D013631:Tangier Disease / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000473:pathology*; D014429:Twins, Dizygotic
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D006728:Hormones; D008055:Lipids