Response to Hall et al

Jessica X Chong¹, Jared C Talbot², Emily M Teets³, Samantha Previs⁴, Brit L Martin⁵, Kathryn M Shively⁶, Colby T Marvin⁶, Arthur S Aylsworth⁷, Reem Saadeh-Haddad⁸, Ulrich A Schatz⁹, Francesca Inzana¹⁰, Tawfeg Ben-Omran¹¹, Fatima Almusafri¹¹, Mariam Al-Mulla¹¹, Kati J Buckingham⁶, Tamar Harel¹², Hagar Mor-Shaked¹², Periyasamy Radhakrishnan¹³, Katta M Girisha¹³, Shalini S Nayak¹³, Anju Shukla¹³, Klaus Dieterich¹⁴, Julien Faure¹⁵, John Rendu¹⁵, Yline Capri¹⁶, Xenia Latypova¹⁵, Deborah A Nickerson¹⁷, David Warshaw⁴, Paul M Janssen⁵; University of Washington Center for Mendelian Genomics; Sharon L Amacher¹⁸, Michael J Bamshad¹⁹

Affiliations

¹ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA.
² Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu.
³ Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.
⁴ Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA.
⁵ Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA.
⁶ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
⁷ Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
⁸ Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA.
⁹ Human Genetics, Medical University, Innsbruck 6020, Austria.
¹⁰ Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.
¹¹ Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.
¹² Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
¹³ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.
¹⁴ Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France.
¹⁵ Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.
¹⁶ Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France.
¹⁷ Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
¹⁸ Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA.
¹⁹ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.

PMID: 33275912
PMCID: PMC7820630
DOI: 10.1016/j.ajhg.2020.11.006

Comment

Response to Hall et al

Jessica X Chong et al. Am J Hum Genet. 2020.

. 2020 Dec 3;107(6):1188-1189.

doi: 10.1016/j.ajhg.2020.11.006.

Authors

Affiliations

¹ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA.
² Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu.
³ Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.
⁴ Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA.
⁵ Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA.
⁶ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
⁷ Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
⁸ Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA.
⁹ Human Genetics, Medical University, Innsbruck 6020, Austria.
¹⁰ Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.
¹¹ Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.
¹² Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.
¹³ Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.
¹⁴ Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France.
¹⁵ Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.
¹⁶ Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France.
¹⁷ Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
¹⁸ Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA.
¹⁹ Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.

PMID: 33275912
PMCID: PMC7820630
DOI: 10.1016/j.ajhg.2020.11.006

No abstract available

PubMed Disclaimer

Comment on

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707087 Free PMC article.
Using the Term Amyoplasia Loosely Can Lead to Confusion.
Hall JG. Hall JG. Am J Hum Genet. 2020 Dec 3;107(6):1186-1187. doi: 10.1016/j.ajhg.2020.10.014. Am J Hum Genet. 2020. PMID: 33275911 Free PMC article. No abstract available.

References

1. Hall J.G., Aldinger K.A., Tanaka K.I. Amyoplasia revisited. Am. J. Med. Genet. A. 2014;164A:700–730. - PubMed
1. Chong J.X., Talbot J.C., Teets E.M., Previs S., Martin B.L., Shively K.M., Marvin C.T., Aylsworth A.S., Saadeh-Haddad R., Schatz U.A., University of Washington Center for Mendelian Genomics Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis. Am. J. Hum. Genet. 2020;107:293–310. - PMC - PubMed
1. Carter M.T., McMillan H.J., Tomin A., Weiss N. Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels (Austin) 2019;13:153–161. - PMC - PubMed
1. Ahmed A.A., Skaria P., Safina N.P., Thiffault I., Kats A., Taboada E., Habeebu S., Saunders C. Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. Am. J. Med. Genet. A. 2018;176:359–367. - PubMed
1. Ravenscroft G., Clayton J.S., Faiz F., Sivadorai P., Milnes D., Cincotta R., Moon P., Kamien B., Edwards M., Delatycki M. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J. Med. Genet. 2020 doi: 10.1136/jmedgenet-2020-106901. jmedgenet-2020-106901. - DOI - PMC - PubMed

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Response to Hall et al

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Response to Hall et al

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