Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

Sophie Hespe; Emma S. Singer; Chloe Reuter; Brittney Murray; Elizabeth Jordan; Jessica Chowns; Stacey Peters; Megan Mayers; Belinda Gray; Ray E. Hershberger; Anjali Owens; Christopher Semsarian; Amber Waddell; Babken Asatryan; Emma Owens; Courtney Thaxton; Mhy-Lanie Adduru; Kailyn Anderson; Emily E. Brown; Lily Hoffman-Andrews; Fergus Stafford; Richard D. Bagnall; Lucas Bronicki; Bert Callewaert; C. Anwar A. Chahal; Cynthia A. James; Olga Jarinova; Andrew P. Landstrom; Elizabeth M. Mcnally; Laura Muiño-Mosquera; Victoria Parikh; Roddy Walsh; Bess Wayburn; James S. Ware; Benjamin L. Parker; Enzo R. Porrello; David A. Elliott; James W. Mcnamara; Jodie Ingles

doi:10.1161/CIRCGEN.124.004976

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

Sophie Hespe, Emma S. Singer, Chloe Reuter, Brittney Murray, Elizabeth Jordan, Jessica Chowns, Stacey Peters, Megan Mayers, Belinda Gray, Ray E. Hershberger, Anjali Owens, Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E. Brown, Lily Hoffman-AndrewsFergus Stafford, Richard D. Bagnall, Lucas Bronicki, Bert Callewaert, C. Anwar A. Chahal, Cynthia A. James, Olga Jarinova, Andrew P. Landstrom, Elizabeth M. Mcnally, Laura Muiño-Mosquera, Victoria Parikh, Roddy Walsh, Bess Wayburn, James S. Ware, Benjamin L. Parker, Enzo R. Porrello, David A. Elliott, James W. Mcnamara, Jodie Ingles^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Article number	e004976
Journal	Circulation: Genomic and Precision Medicine
Volume	18
Issue number	3
Early online date	2025
DOIs	https://doi.org/10.1161/CIRCGEN.124.004976
Publication status	Published - 1 Jun 2025

Keywords

cardiac
cardiomyopathy
exons
hypertrophic
myocytes
phenotype
protein kinases

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10.1161/CIRCGEN.124.004976

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Hespe, S., Singer, E. S., Reuter, C., Murray, B., Jordan, E., Chowns, J., Peters, S., Mayers, M., Gray, B., Hershberger, R. E., Owens, A., Semsarian, C., Waddell, A., Asatryan, B., Owens, E., Thaxton, C., Adduru, M.-L., Anderson, K., Brown, E. E., ... Ingles, J. (2025). Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine, 18(3), Article e004976. https://doi.org/10.1161/CIRCGEN.124.004976

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title = "Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy",

keywords = "cardiac, cardiomyopathy, exons, hypertrophic, myocytes, phenotype, protein kinases",

author = "Sophie Hespe and Singer, {Emma S.} and Chloe Reuter and Brittney Murray and Elizabeth Jordan and Jessica Chowns and Stacey Peters and Megan Mayers and Belinda Gray and Hershberger, {Ray E.} and Anjali Owens and Christopher Semsarian and Amber Waddell and Babken Asatryan and Emma Owens and Courtney Thaxton and Mhy-Lanie Adduru and Kailyn Anderson and Brown, {Emily E.} and Lily Hoffman-Andrews and Fergus Stafford and Bagnall, {Richard D.} and Lucas Bronicki and Bert Callewaert and Chahal, {C. Anwar A.} and James, {Cynthia A.} and Olga Jarinova and Landstrom, {Andrew P.} and Mcnally, {Elizabeth M.} and Laura Mui{\~n}o-Mosquera and Victoria Parikh and Roddy Walsh and Bess Wayburn and Ware, {James S.} and Parker, {Benjamin L.} and Porrello, {Enzo R.} and Elliott, {David A.} and Mcnamara, {James W.} and Jodie Ingles",

year = "2025",

month = jun,

day = "1",

doi = "10.1161/CIRCGEN.124.004976",

language = "English",

volume = "18",

journal = "Circulation: Genomic and Precision Medicine",

issn = "2574-8300",

publisher = "Lippincott Williams and Wilkins Ltd.",

number = "3",

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Hespe, S, Singer, ES, Reuter, C, Murray, B, Jordan, E, Chowns, J, Peters, S, Mayers, M, Gray, B, Hershberger, RE, Owens, A, Semsarian, C, Waddell, A, Asatryan, B, Owens, E, Thaxton, C, Adduru, M-L, Anderson, K, Brown, EE, Hoffman-Andrews, L, Stafford, F, Bagnall, RD, Bronicki, L, Callewaert, B, Chahal, CAA, James, CA, Jarinova, O, Landstrom, AP, Mcnally, EM, Muiño-Mosquera, L, Parikh, V, Walsh, R, Wayburn, B, Ware, JS, Parker, BL, Porrello, ER, Elliott, DA, Mcnamara, JW & Ingles, J 2025, 'Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy', Circulation: Genomic and Precision Medicine, vol. 18, no. 3, e004976. https://doi.org/10.1161/CIRCGEN.124.004976

TY - JOUR

T1 - Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

AU - Hespe, Sophie

AU - Singer, Emma S.

AU - Reuter, Chloe

AU - Murray, Brittney

AU - Jordan, Elizabeth

AU - Chowns, Jessica

AU - Peters, Stacey

AU - Mayers, Megan

AU - Gray, Belinda

AU - Hershberger, Ray E.

AU - Owens, Anjali

AU - Semsarian, Christopher

AU - Waddell, Amber

AU - Asatryan, Babken

AU - Owens, Emma

AU - Thaxton, Courtney

AU - Adduru, Mhy-Lanie

AU - Anderson, Kailyn

AU - Brown, Emily E.

AU - Hoffman-Andrews, Lily

AU - Stafford, Fergus

AU - Bagnall, Richard D.

AU - Bronicki, Lucas

AU - Callewaert, Bert

AU - Chahal, C. Anwar A.

AU - James, Cynthia A.

AU - Jarinova, Olga

AU - Landstrom, Andrew P.

AU - Mcnally, Elizabeth M.

AU - Muiño-Mosquera, Laura

AU - Parikh, Victoria

AU - Walsh, Roddy

AU - Wayburn, Bess

AU - Ware, James S.

AU - Parker, Benjamin L.

AU - Porrello, Enzo R.

AU - Elliott, David A.

AU - Mcnamara, James W.

AU - Ingles, Jodie

PY - 2025/6/1

Y1 - 2025/6/1

KW - cardiac

KW - cardiomyopathy

KW - exons

KW - hypertrophic

KW - myocytes

KW - phenotype

KW - protein kinases

UR - http://www.scopus.com/inward/record.url?scp=105003830080&partnerID=8YFLogxK

U2 - 10.1161/CIRCGEN.124.004976

DO - 10.1161/CIRCGEN.124.004976

M3 - Article

C2 - 40255155

SN - 2574-8300

VL - 18

JO - Circulation: Genomic and Precision Medicine

JF - Circulation: Genomic and Precision Medicine

IS - 3

M1 - e004976

ER -

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

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