Likely inborn error of metabolism - targeted testing not possible
Gene: MTTP
Abetalipoproteinemia (ABL) is characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. Many unrelated cases (more than 3) that link at least 10 variants of MTTP to Abetalipoproteinemia (PMID: 8361539, 8361539, 10446076, 10946006, 17275380 ). Note that in PMID 27578136 (2016) report the case of two cousins, one presenting classical symptoms of abetalipoproteinemia (hmz for c.1867+1G>A) and one presenting a much attenuated phenotype (compound htz for c.1867+1G>A and p.R450C) report suggests that ABL can present itself with a very incomplete clinical penetrance. PMID 16721486 reports protective phenotype {Metabolic syndrome, protection against} 605552 associated with monoallelic variant rs3816873. On Radboud MOVEMENT DISORDERS panel.Created: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY)
Publications
Source NHS GMS was added to MTTP. Source London North GLH was added to MTTP.
Ellen McDonagh: Comment on mode of pathogenici
gene: MTTP was added gene: MTTP was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTTP were set to 27604308 Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100; (ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY); Familial abetalipoproteinaemia (Inherited hypolipidaemias)