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An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Bochen Zhu^1,2,3, Kexin Jiao^1,2,3, Xiaona Luo⁴

¹Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Road, Jing'an District, Shanghai 200040, China.

Human Molecular Genetics

|February 23, 2026

Summary

This summary is machine-generated.

Polyglucosan body myopathy type 1, a rare genetic disorder, is caused by RBCK1 gene variants. Advanced sequencing revealed a homozygous intergenic inversion in the RBCK1 gene, identifying a structural rearrangement hotspot.

Keywords:

RBCK1 Polyglucosan body myopathy RNA sequencing glycogen storage disease

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Functional Characterization of Endogenously Expressed Human RYR1 Variants

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

Area of Science:

Genetics
Neuromuscular Disorders
Biochemistry

Background:

Polyglucosan body myopathy type 1 (PGBM1) is a rare glycogen storage disorder.
It is characterized by polyglucosan accumulation in skeletal muscle, caused by RBCK1 gene variants.
PGBM1 poses diagnostic challenges due to rarity and complex genetic mechanisms.

Purpose of the Study:

To describe a case of PGBM1 in a pediatric patient.
To elucidate the underlying genetic cause using advanced sequencing techniques.
To investigate potential recurrent structural rearrangements in the RBCK1 gene region.

Main Methods:

Clinical presentation of a 12-year-old boy with progressive lower limb weakness.
Muscle biopsy analysis showing polyglucosan myopathy features.
Integrated whole-genome sequencing and RNA sequencing for molecular diagnosis.

Main Results:

Identified an Alu-mediated homozygous intergenic inversion involving RBCK1 exons 1-4.
Confirmed PGBM1 diagnosis through combined genomic and transcriptomic analysis.
Observed recurrent recombination between RBCK1 and TRIB3, indicating a hotspot for structural rearrangements at 20p13.

Conclusions:

The study successfully diagnosed PGBM1 using integrated sequencing.
An Alu-mediated inversion in the RBCK1 gene was identified as the causative mechanism.
The 20p13 region, encompassing RBCK1 and TRIB3, is implicated as a hotspot for structural rearrangements in PGBM1.