A Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB.
Intern Med
; 2024 Feb 19.
Article
em En
| MEDLINE
| ID: mdl-38369355
ABSTRACT
We herein report the first family of Japanese individuals with familial hypobetalipoproteinemia caused by the c.1468C>T mutation in apolipoprotein B (APOB). A 13-year-old boy with extremely low levels of low-density lipoprotein (LDL) cholesterol (24 mg/dL) was referred to our hospital. The patient had no secondary causes of hypobetalipoproteinemia. His father and grandmother also exhibited low LDL cholesterol levels. A genetic analysis confirmed that they all had this variant in APOB (c.1468C>T). None of the patients exhibited atherosclerotic cardiovascular diseases or any other complications associated with low LDL cholesterol levels, including fatty liver, neurocognitive disorders, and cerebral hemorrhaging.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Intern Med
Ano de publicação:
2024
Tipo de documento:
Article