A girl with infantile neuronal ceroid lipofuscinosis caused by novel PPT1 mutation and paternal uniparental isodisomy of chromosome 1.

Abstract

BACKGROUND:

Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disorder starting in infancy as early as 12-month-old, caused by PPT1 (palmitoyl-protein thioesterase 1) mutations, and characterized by progressive psychomotor deterioration, brain atrophy, myoclonic jerk and visual impairment. INCL can be diagnosed by brain magnetic resonance image (MRI) prior to rapid deterioration stage. To date, there is no INCL patient whose manifestation was caused by uniparental isodisomy (UPiD).

PATIENT:

We reported a girl diagnosed with INCL. Genetic analysis revealed a novel PPT1 mutation c.20_47del28:p.Leu7Hisfs*21. Only the father of the patient was found as a carrier of this mutation. SNP array showed the mutation became homozygous by paternal UPiD of chromosome 1.

DISCUSSION:

Although ICNL is a rare disease except in Finland, it is not difficult to diagnose it since the clinical symptoms and MRI findings are characteristic. Genetic testing is useful for definitive diagnosis, and distinction of UPiD is essential for genetic counseling.

• Authors: Yo Niida, Ayano Yokoi, Mondo Kuroda, Yusuke Mitani, Hiroyasu Nakagawa, Mamoru Ozaki
• Journal: Brain & development (Brain Dev) Vol. 38 Issue 7 Pg. 674-7 (Aug 2016) ISSN: 1872-7131 [Electronic] Netherlands
• PMID: 26846731 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Chemical References

• Membrane Proteins
• Thiolester Hydrolases
• PPT1 protein, human

Topics

• Brain (diagnostic imaging)
• Child, Preschool
• Chromosomes, Human, Pair 1
• Diagnosis, Differential
• Female
• Frameshift Mutation
• Humans
• Infant
• Magnetic Resonance Imaging
• Membrane Proteins (genetics)
• Neuronal Ceroid-Lipofuscinoses (diagnosis, genetics, physiopathology)
• Oligonucleotide Array Sequence Analysis
• Polymorphism, Single Nucleotide
• Thiolester Hydrolases
• Uniparental Disomy (diagnosis, genetics, physiopathology)