Review
Copyright ©The Author(s) 2020.
World J Clin Cases. Dec 6, 2020; 8(23): 5852-5865
Published online Dec 6, 2020. doi: 10.12998/wjcc.v8.i23.5852
Table 1 Congenital forms
Genetic mode (Chromosome)Mutant gene/disease
Autosomal dominant inheritanceSOX10/Waardenburg-Shah syndrome[60]
Autosomal recessive inheritanceACTG2/Megacystis–microcolon–intestinal hypoperistalsis syndrome
SGOL1/Chronic atrial and intestinal dysrhythmia syndrome
POLG/Alpers’ disease[116]
TYMP, POLG/Mitochondrial neurogastrointestinal encephalomyopathy
8q23-q24: A new chromosomal localization related to CIPO[117]
X-linked recessiveXq28: Filamin A and L1CAM genes[118]