{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:12Z","timestamp":1753869732962,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T00:00:00Z","timestamp":1672963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The role of biallelic variants in the <jats:italic>NRCAM<\/jats:italic> gene underlying a neurodevelopmental disorder has been defined recently. The phenotype is mainly recognized by varying severity of global developmental delay\/intellectual disability, hypotonia, spasticity, and peripheral neuropathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Here, we describe a patient with an initial diagnosis of motor\u2010predominant axonal polyneuropathy or a form of distal SMA. Whole\u2010exome sequencing (WES), in parallel with WES\u2010based CNV detection and assessment of homozygosity runs, was performed to identify this patient's possible genetic cause.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole exome sequencing revealed a homozygous variant, c.73C\u2009&gt;\u2009T (p.Gln25*), in the <jats:italic>NRCAM<\/jats:italic> gene, while the patient manifests a mild range of phenotypes compared to <jats:italic>NRCAM<\/jats:italic>\u2010related disorder. He presented only motor\u2010predominant axonal polyneuropathy with no other signs of central nervous system involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study is the second report of an association between biallelic <jats:italic>NRCAM<\/jats:italic> gene variants and a Mendelian disorder. The obtained clinical data, together with the molecular findings in this patient, expands the clinical and molecular spectrum of <jats:italic>NRCAM<\/jats:italic>\u2010related disorder and highlights its phenotypic complexity. Although patients with loss of function variants in this gene have previously presented severe clinical features, we show that type of the pathogenic variant does not necessarily determine the severity of this phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2131","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T08:46:17Z","timestamp":1672994777000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Bi\u2010allelic loss of function variant in the <i>NRCAM<\/i> gene is associated with motor\u2010predominant axonal polyneuropathy; the second report"],"prefix":"10.1002","volume":"11","author":[{"given":"Zohreh","family":"Elahi","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"},{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad","family":"Soveyzi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences  Tehran Iran"},{"name":"Department of Neurology, Shariati Hospital Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yalda","family":"Nilipour","sequence":"additional","affiliation":[{"name":"Pediatric Pathology Research Center, Research Institute for Children's Health, Mofid Children Hospital, School of Medicine Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoumeh","family":"Goleyjani\u00a0Moghadam","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"Keshavarz","sequence":"additional","affiliation":[{"name":"Department of Radiology Mahdiyeh Hospital, Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; 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