Abstract
Background
Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in
the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric
crises and limb dystonia, generalized athetosis, and impaired voluntary movement.
Objective
To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency.
Methods
We used targeted next-generation sequencing and quantitative polymerase chain reaction
(qPCR) to reveal DDC mutations in these children.
Results
Two DDC gene mutations were found: one missense mutation, c.1040G > A (p.Arg347Gln), is a
reported mutation derived from the mother; the other mutation, a whole-exon 11 and
12 deletion, is a novel mutation derived from the father. The index patient and her
brother both had poor sucking power and feeding difficulty at birth and episodes of
oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability,
and motor delay. The siblings both died at 1 year and 10 months due to asphyxia and
pneumonia during gaze and hypertonia episodes.
Conclusion
This study identified a novel DDC gene deletion mutation in two siblings with AADC deficiency disease in the Chinese
mainland population.
Keywords
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Article info
Publication history
Published online: August 22, 2018
Received in revised form:
August 7,
2018
Received:
October 12,
2017
Identification
Copyright
© 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
