Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome

American Journal of Medical Genetics. Part a
Shino ShimadaToshiyuki Yamamoto

Abstract

Vici syndrome is a rare, autosomal recessive, multisystem disorder, characterized by agenesis of the corpus callosum, cataracts, psychomotor delay, cardiomyopathy, hypopigmentation, and recurrent infections. Mutations in the ectopic P-granules autophagy protein 5 homolog gene (EPG5), which encodes a key autophagy regulator, are responsible for this syndrome. A 3-year-old Japanese girl manifesting similar symptoms to those found in patients with Vici syndrome showed intractable diarrhea, rather than immunodeficiency. Whole exome sequencing identified only a heterozygous variant in EPG5, NM_020964.2(EPG5):c.3389A > C (p.His1130Pro), which was inherited from her mother. Sequencing analyses of the EPG5 messenger RNA showed only an altered nucleotide "C" at position, c.3389, indicating decreased expression of the wild-type allele. Microarray-based comparative genomic hybridization revealed a de novo microduplication in the exon 1 region. Large exon deletions and duplications of EPG5 have never been reported so far. This was considered the cause of the decreased expression of the wild-type allele. In conclusion, we successfully identified novel compound heterozygous mutations in EPG5 in a patient who was clinically considered to have...Continue Reading

References

Apr 5, 2002·American Journal of Medical Genetics·Tomohiro ChiyonobuYasuo Kasubuchi
Oct 4, 2011·American Journal of Medical Genetics. Part a·Andrea FinocchiCarlo Dionisi-Vici
Jul 11, 2013·European Journal of Human Genetics : EJHG·Thomas CullupHeinz Jungbluth
Feb 26, 2016·Journal of Human Genetics·Koichiro HigasaFumihiko Matsuda
Feb 27, 2016·Brain : a Journal of Neurology·Susan ByrneHeinz Jungbluth
Jun 19, 2017·Neuromuscular Disorders : NMD·Carola Hedberg-OldforsAnders Oldfors

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Citations

Feb 27, 2019·Autophagy·Giacomo MeneghettiLuisa Dalla Valle
May 17, 2019·Daru : Journal of Faculty of Pharmacy, Tehran University of Medical Sciences·Masumeh GhazanfarpourRamin Rezaee
Oct 1, 2019·Animal Genetics·S A WoolleyI Tammen
Jun 12, 2019·Annals of Human Genetics·Eszter VojcekKálmán Tory

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