{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T20:42:55Z","timestamp":1785357775424,"version":"3.55.0"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2025,3,17]],"date-time":"2025-03-17T00:00:00Z","timestamp":1742169600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100013428","name":"Stichting Spieren voor Spieren","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013428","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union\u2019s Horizon 2020 Research and Innovation Program"},{"DOI":"10.13039\/100010665","name":"Marie Sk\u0142odowska-Curie Actions","doi-asserted-by":"publisher","award":["956185"],"award-info":[{"award-number":["956185"]}],"id":[{"id":"10.13039\/100010665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OB21-01"],"award-info":[{"award-number":["W.OB21-01"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive disease most commonly caused by homozygous deletion of the SMN1 gene. Parents of affected children are typically carriers, with a recurrence risk of 25% for future pregnancies. Their close relatives have up to 50% chance of being carriers. Carriers typically possess a single copy of the SMN1 gene; however, some parents carry two copies of SMN1. Current standard diagnostic carrier tests are unable to distinguish between silent carriers with two copies on one chromosome (2\u2009+\u20090 genotype) and non-carriers (1\u2009+\u20091 genotype), where a de novo deletion occurred. This distinction is crucial for recurrence risk assessment, which highlights the unsolved challenge to carrier testing and genetic counseling. We combined microsatellite marker analysis, SMN copy number analysis, Sanger sequencing, long-read sequencing and de novo assembly to investigate the cause of the absence of SMN1 in a pedigree with an SMA patient identified through newborn screening, whose parents each carried two SMN1 copies. Our analysis revealed that the father is a silent carrier, while de novo assembly of the SMN locus showed a 1.4 megabase (Mb) de novo deletion between mother and child. This deletion encompasses SMN1 and SMN2 and represents the first reported nucleotide-level resolved SMA-causing deletion to date. Our findings allowed informed counseling of at-risk relatives and illustrate the complexity of SMA carrier testing and counseling. This case underscores the feasibility of and need for advanced genetic testing for SMA carriership in select cases, to improve genetic counseling practices, risk assessment, and family planning.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf035","type":"journal-article","created":{"date-parts":[[2025,3,17]],"date-time":"2025-03-17T13:20:31Z","timestamp":1742217631000},"page":"894-904","source":"Crossref","is-referenced-by-count":4,"title":["A <i>de novo<\/i> deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8868-7155","authenticated-orcid":false,"given":"Maria M","family":"Zwartkruis","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]},{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjam S","family":"de Pagter","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7411-1352","authenticated-orcid":false,"given":"Demi","family":"Gommers","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]},{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Koopmans","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile P E","family":"Ottenheim","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam UMC, University of Amsterdam , Meibergdreef 9, Amsterdam 1105 AZ ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris V","family":"Kortooms","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjan","family":"Albring","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin G","family":"Elferink","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renske I","family":"Wadman","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fay-Lynn","family":"Asselman","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge","family":"Cuppen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W Ludo","family":"van der Pol","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel R","family":"Nelen","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gijs W","family":"van Haaften","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2330-9444","authenticated-orcid":false,"given":"Ewout J N","family":"Groen","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht , Heidelberglaan 100, Utrecht 3584 CX ,","place":["the Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,3,17]]},"reference":[{"key":"2025050702470670900_ref1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"2025050702470670900_ref2","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"2025050702470670900_ref3","doi-asserted-by":"crossref","first-page":"fcaa075","DOI":"10.1093\/braincomms\/fcaa075","article-title":"Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy","volume":"2","author":"Wadman","year":"2020","journal-title":"Brain Commun"},{"key":"2025050702470670900_ref4","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.tins.2020.11.009","article-title":"Spinal muscular atrophy: In the challenge lies a solution","volume":"44","author":"Wirth","year":"2021","journal-title":"Trends Neurosci"},{"key":"2025050702470670900_ref5","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/s10897-015-9859-z","article-title":"Review of spinal muscular atrophy (SMA) for prenatal and Pediatric genetic Counselors","volume":"25","author":"Carr\u00e9","year":"2016","journal-title":"J Genet Couns"},{"key":"2025050702470670900_ref6","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.3390\/genes13091657","article-title":"Recommendations for interpreting and reporting silent carrier and disease-modifying variants in SMA testing 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