{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:08:26Z","timestamp":1787238506141,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,6,7]],"date-time":"2012-06-07T00:00:00Z","timestamp":1339027200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report on a rare homozygous intragenic deletion encompassing exons 1\u20136 of the\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene in a patient with spinal muscular atrophy (SMA) born into a consanguineous family. This exceptional configuration induced misinterpretation of the molecular defect involved in this patient, who was first reported as having a classic\n                    <jats:italic>SMN1<\/jats:italic>\n                    exon 7 deletion. This case points out the possible pitfalls in molecular diagnosis of SMA in affected patients and their relatives: exploration of the\n                    <jats:italic>SMN1<\/jats:italic>\n                    exon 7 (c.840C\/T alleles) may be disturbed by several non\u2010pathological or pathological variants around the\n                    <jats:italic>SMN1<\/jats:italic>\n                    exon 7. In order to accurately describe the molecular defect in an SMA\u2010affected patient, we propose to apply the Human Genome Variation Society nomenclature. This widely accepted nomenclature would improve the reporting of the molecular defect observed in SMA patients and thus would avoid the commonly used but imprecise terminology \u201cabsence of\n                    <jats:italic>SMN1<\/jats:italic>\n                    exon 7.\u201d \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.35402","type":"journal-article","created":{"date-parts":[[2012,6,7]],"date-time":"2012-06-07T16:21:06Z","timestamp":1339086066000},"page":"1735-1741","source":"Crossref","is-referenced-by-count":17,"title":["Homozygous SMN1 exons 1\u20136 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis"],"prefix":"10.1002","volume":"158A","author":[{"given":"C.","family":"Thauvin\u2010Robinet","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Drunat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Saugier 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