A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases

Autor: Juan Rafael Zárate Guerrero, María Teresa Magaña Torres, Juan Ramón González García, Perla Graciela Rodríguez Gutiérrez, Yolanda Alicia Castillo de León
Rok vydání: 2020
Předmět:
0301 basic medicine
Microbiology (medical)
Adult
Male
medicine.medical_specialty
Malabsorption
Adolescent
Anemia
Clinical Biochemistry
diarrhea
low lipid levels
Gastroenterology
abetalipoproteinemia in Mexico
novel mutation p.Gly417Valfs*12
03 medical and health sciences
0302 clinical medicine
Internal medicine
medicine
Immunology and Allergy
Humans
Child
Mexico
Research Articles
business.industry
Biochemistry (medical)
Public Health
Environmental and Occupational Health
MTTP gene
Abetalipoproteinemia
analysis of 100 cases with abetalipoproteinemia
Hematology
Odds ratio
Middle Aged
medicine.disease
Pedigree
Medical Laboratory Technology
Diarrhea
030104 developmental biology
030220 oncology & carcinogenesis
Mutation (genetic algorithm)
Failure to thrive
Mutation
Vomiting
Female
medicine.symptom
business
Carrier Proteins
Research Article
Zdroj: Journal of Clinical Laboratory Analysis
ISSN: 1098-2825
Popis: Background Our aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature. Methods We performed biochemical and molecular screenings in a Mexican girl with extremely low lipid levels and in her family. Further, we integrated and evaluated the characteristics of the cases with abetalipoproteinemia described in the literature. Results Our patient is a six‐year‐old girl who presented vomiting, chronic diarrhea, failure to thrive, malabsorption, acanthocytosis, anemia, transaminases elevation, and extremely low lipid levels. MTTP gene sequencing revealed homozygosity for a novel mutation p.Gly417Valfs*12 (G deletion c.1250). With the analysis of the reported cases, 60 clinical features (14 classical and 46 non‐classical) were observed, being the most common acanthocytosis (57.5%), malabsorption (43.7%), and diarrhea (42.5%); 48.8% of the patients presented only classic clinical features, while the remaining 51.2% developed secondary effects due to a fat‐soluble vitamin deficiency. An odds ratio analysis disclosed that patients diagnosed after 10 years of age have an increased risk for presenting clinical complications (OR = 18.0; 95% CI 6.0‐54.1, p
Our aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature. MTTP gene sequencing revealed homozygosity for a novel mutation p.Gly417Valfs*12 causal of abetalipoproteinemia. Three factors that could modulate the phenotype in abetalipoproteinemia were identified: age at diagnosis, treatment, and the causal mutation.
Databáze: OpenAIRE
Externí odkaz: