DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis

European Journal of Human Genetics : EJHG
Danielle VeenmaSaadet Mercimek-Mahmutoglu

Abstract

Hyperphenylalaninemia, movement disorder, and intellectual disability due to variants in DNAJC12 is a recently reported inherited neurotransmitter disorder. We report two new patients with this new genetic disorder. Patient 1 is a 6-year-11-month-old boy with mild hyperphenylalaninemia and global developmental delay (GDD). Seventeen-year-old male sibling of patient 1 had GDD from the first year of life. He had mild hyperphenylalaninemia at 11.5 years of age following his younger brother's diagnosis. He had low levels of homovanillic acid and 5-hydroxyindolacetic acid in the cerebrospinal fluid. Whole-exome sequencing (WES) was normal in 2016. After the first description of DNAJC12-associated hyperphenylalaninemia, dystonia, and intellectual disability in 2017, WES re-analysis identified a homozygous c.58_59delGG (p.(Gly20Metfs*2)) variant in DNAJC12. His younger brother was homozygous for the same variant, confirming the diagnosis of DNAJC12-associated hyperphenylalaninemia, movement disorder, and intellectual disability. Mild hyperphenylalaninemia and GDD should warrant targeted DNAJC12 genetic testing for the early diagnosis of DNAJC12-associated hyperphenylalaninemia, movement disorder, and intellectual disability.

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Citations

Jan 23, 2019·Human Mutation·Kunwar Jung-KcAurora Martinez
Sep 6, 2020·Brain : a Journal of Neurology·Niccolò E MencacciMina Ryten
Jan 3, 2021·Journal of Neural Transmission·Paulina Gonzalez-LatapiNiccolò E Mencacci
Feb 11, 2021·Current Neurology and Neuroscience Reports·Ignacio Juan Keller Sarmiento, Niccolò Emanuele Mencacci
Aug 18, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Francesco PortaMarco Spada

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