What is BCAP31-related disorder?

The BCAP31 (B-Cell-Associated Protein 31) gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. As the gene is located on the X-chromosome, these disorders primarily affect males. Patients commonly present with a congenital neurological phenotype characterized by severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Female carriers are mostly asymptomatic but may present with deafness. Most patients with a Loss of Function pathogenic BCAP31 variant have permanent or transient liver enzyme elevation.

Current Research Opportunities

BCAP31 Data Collection Program Powered by Rare-X

BCAP31.org has partnered with RARE-X to build a Data Collection Program for the BCAP31 community.

***The live BCAP31 RARE-X Data Collection participation link is here: Join BCAP31 Data Collection Program

When you participate in data collection, sometimes called a disease or patient registry, you’ll help accelerate research and community & clinician understanding of how to best support affected patients. Collecting data is an essential first step on a rare disease research journey and an important way for patients and their caregivers to contribute to advancing care for their communities.

The BCAP31 Data Collection Program will…

Help families and caregivers better understand issues and symptoms faced by people with BCAP31-related genetic conditions
Inform researchers how BCAP31-related conditions change over time
Enable better data to design and use in clinical trials
Provide patients the opportunity to participate in clinical trials
Reduce the time it takes to study new medicines treating common symptoms of BCAP31 disorders (e.g. severe dystonia)
Speed up the time to get treatments to patients

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Research Library

This is not an exhaustive list of published research on BCAP31, but represents the papers commonly found to be the most thorough and helpful to families and clinicians in understanding the disease.

Journal Articles

**NEW** Huggins E, Jackson D, Young S, Kishnani P. Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III. Molecular Genetics and Metabolism Reports. 2024 Sep. https://doi.org/10.1016/j.ymgmr.2024.101117

Whalen S, Shaw M, Mignot C, Villard L, et al. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European Journal of Human Genetics. 2020 June 28. https://doi.org/10.1038/s41431-021-00821-0

Cacciagli P, Villard L, et al. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. American Journal of Human Genetics. 2013 Sep 5;93(3):579-86. https://doi.org/10.1016/j.ajhg.2013.07.023.

Shimizu K, Oba D, Nambu R, et al. Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. Molecular Genetics & Genomic Medicine. 2020 January 6. https://doi.org/10.1002/mgg3.1129

Quistgaard, E. BAP31: Physiological functions and roles in disease. Biochimie 186 (2021) 105e129. https://doi.org/10.1016/j.biochi.2021.04.008

Rinaldi B, Van Hoof E, Corveleyn A, Van Cauter A, de Ravel T. BCAP31-related syndrome: The first de novo report. European Journal of Medical Genetics. 2020 Feb;63(2):103732. https://doi: 10.1016/j.ejmg.2019.103732