A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome

Clin Genet. 2018 Apr;93(4):929-930. doi: 10.1111/cge.13105. Epub 2017 Oct 4.

Authors

N Miyake¹, S Ozasa², H Mabe², S Kimura³, M Shiina⁴, E Imagawa¹, S Miyatake¹, M Nakashima¹, T Mizuguchi¹, A Takata¹, K Ogata⁴, N Matsumoto¹

Affiliations

¹ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
² Department of Pediatrics, Kumamoto University, Kumamoto, Japan.
³ Kumamoto City Child Development Support Center, Kumamoto, Japan.
⁴ Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 28975623
DOI: 10.1111/cge.13105

Abstract

A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.

© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence / genetics*
Child, Preschool
Developmental Disabilities / genetics*
Developmental Disabilities / physiopathology
Exome / genetics*
Female
Humans
Male
Phenotype
Vesicular Transport Proteins / genetics*

Substances

PACS1 protein, human
Vesicular Transport Proteins