This case report identifies novel compound heterozygous mutations in the MTP gene in a patient with a mild presentation of abetalipoproteinaemia and subclinical hypothyroidism.
Extends MTP variant spectrum in mild abetalipoproteinaemia; leaves open hypothyroidism association pending validation.
Abetalipoproteinaemia (ABL), an extremely rare recessive disorder, is characterized by exceptionally low or undetectable concentrations of apolipoprotein (apo) B-containing lipoproteins. ABL results from mutations in the gene encoding microsomal triglyceride transfer protein (MTP), a chaperone that facilitates the transfer of lipids onto apoB. Patients with ABL often present in childhood with a range of symptoms including fat malabsorption and manifestations of fat-soluble vitamin deficiencies. We describe a patient with sub-clinical hypothyroidism and ABL found to be compound heterozygous for a novel splice site mutation of intron 1 (c.61 + 2T > C) and a single adenine insertion in MTP exon 4 (c.419-420insA) that results in a frameshift and a protein truncated at 140 amino acids.
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Al-Mahdili et al. (2006) studied this question.
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