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Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants

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Abstract

Background

Phelan-McDermid syndrome (PMS) is a rare genetic disorder caused by SHANK3 pathogenic variants or chromosomal rearrangements affecting the chromosome 22q13 region. Previous research found that kidney disorders, primarily congenital anomalies of the kidney and urinary tract, are common in people with PMS, yet research into candidate genes has been hampered by small study sizes and lack of attention to these problems.

Methods

We used a cohort of 357 people from the Phelan-McDermid Syndrome Foundation International Registry to investigate the prevalence of kidney disorders in PMS using a cross-sectional design and to identify 22q13 genes contributing to these disorders.

Results

Kidney disorders reported included vesicoureteral reflux (n = 37), hydronephrosis (n = 36), dysplastic kidneys (n = 19), increased kidney size (n = 19), polycystic kidneys (15 cases), and kidney stones (n = 4). Out of 315 subjects with a 22q13 deletion, 101 (32%) had at least one kidney disorder, while only one out of 42 (2%) individuals with a SHANK3 pathogenic variant had a kidney disorder (increased kidney size). We identified two genomic regions that were significantly associated with having a kidney disorder with the peak associations observed near positions approximately 5 Mb and 400 Kb from the telomere.

Conclusions

The candidate genes for kidney disorders include FBLN1, WNT7B, UPK3A, CELSR1, and PLXNB2. This study demonstrates the utility of patient registries for uncovering genetic contributions to rare diseases. Future work should focus on functional studies for these genes to assess their potential pathogenic contribution to the different subsets of kidney disorders.

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Data availability

The deidentified data for this analysis was obtained from the Phelan-McDermid Syndrome International Registry (now known as DataHub) of the Phelan-McDermid Syndrome Foundation. Thus, requests for data should be directed to the owners of the data at the PMSF.

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Acknowledgements

We thank the Phelan-McDermid Syndrome Foundation and the PMS International Registry for their support. We thank the families and people with Phelan-McDermid syndrome who made this study possible. We thank the Gala for 22 for supporting the Phelan-McDermid Syndrome Research Initiative at Clemson University.

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Authors and Affiliations

  1. School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, 29634, USA

    Megan D. McCoy, Sara M. Sarasua, Jane M. DeLuca, Stephanie Davis & Luigi Boccuto

  2. Greenwood Genetic Center, Greenwood, SC, 29646, USA

    R. Curtis Rogers

  3. Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, 33916, USA

    Katy Phelan

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  1. Megan D. McCoy
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Contributions

Megan McCoy planned and designed the study, analyzed the data, interpreted the findings, and wrote the manuscript. Sara Sarasua planned and designed the study, analyzed the data, supervised the data analysis, interpreted the findings, and revised the manuscript. Jane DeLuca planned the study, interpreted the findings, supervised the writing, and revised the manuscript. Stephanie Davis planned the study, interpreted the findings, and revised the manuscript. Curtis Rogers planned the study, interpreted the findings, and revised the manuscript. Katy Phelan planned the study, interpreted the findings, and revised the manuscript. Luigi Boccuto planned and designed the study, acquired the data, interpreted the findings, and revised the manuscript.

Corresponding author

Correspondence to Sara M. Sarasua.

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McCoy, M.D., Sarasua, S.M., DeLuca, J.M. et al. Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants. Pediatr Nephrol 39, 749–760 (2024). https://doi.org/10.1007/s00467-023-06146-y

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