Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
Pembe Soylu UstkoyuncuSongul GokayEsra ErenDurmuş DoğanGokce YildizAysegul YilmazFatma Turkan MutluPublished in: Journal of clinical research in pediatric endocrinology (2020)
Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of fever, cough, diarrhea and failure to thrive. She had low cholesterol and TG levels according to her age. The peripheral blood smear revealed acanthocytosis. Thyroid function test showed central hypothyroidism. Cranial magnetic resonance imaging revealed the retardation of myelination and pituitary gland height was 1.7 mm. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene. Vitamins A, D, E, and K and levothyroxine were started. The coexistence of ABL and central hypothyroidism has not previously been reported. A homozygous novel mutation [c.506A>T (p.D169V)] was detected in the MTTP gene.
Keyphrases
- magnetic resonance imaging
- peripheral blood
- copy number
- genome wide
- low density lipoprotein
- replacement therapy
- genome wide identification
- healthcare
- single cell
- body mass index
- emergency department
- gene expression
- pulmonary tuberculosis
- intellectual disability
- genome wide analysis
- binding protein
- amino acid
- protein protein
- diffusion weighted imaging