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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 2 (COQ10D2)
614651
OMIM = Online Medalian Inheritance of Men
254898
10p12.1
rare
autosomal recessive
mutation in the PDSS1 gene
symptoms
areflexia
cardiac involvement, cardiac defects
hearing defect, deafness
heart involvement
lactic acidosis
macrocephaly (large calvaria, >2 SD for age)
mental retardation
obesity
onset, childhood
onset, variable age
optic atrophy
peripheral neuropathy
pulmonary hypertension
valvular heart disease
laboratory finding
Lactic acid increasedserum
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Gohar NA,et al.Identification of insulin gene variants in neonatal diabetesJ Matern Fetal Neonatal Med3091035-10402017
Courtney R,et al.Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblingsJ Pediatr Endocrinol Metab2991089-10932016
St+©y J,et al.Insulin gene mutations as a cause of permanent neonatal diabetesProc Natl Acad Sci U S A1043815040-442007