Clinical characteristics of a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant
Published: 24 November 2022| Version 1 | DOI: 10.17632/sm84p6vp26.1
Contributors:
Neza Molk, Mojca Bitenc, Darja Urlep, Mojca Zerjav Tansek, Sara Bertok, Katarina Trebusak Podkrajsek, Ursa Sustar, Jernej Kovač, Tadej Battelino, Marusa Debeljak, Urh GroseljDescription
Familial hypobetalipoproteinemia (FHBL) is an autosomal codominant disorder usually caused by variants in the APOB gene that frequently interfere with protein length. Clinical manifestations include malabsorption, nonalcoholic fatty liver disease, low levels of lipid-soluble vitamins, and neurological, endocrine, and hematological dysfunction. We present clinical data of a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant.
Files
Categories
Genetics, Dyslipidemia, Pediatric Genetics, Next Generation Sequencing