{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:32:38Z","timestamp":1767835958190,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T00:00:00Z","timestamp":1710806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary microcephaly is characterized by a head circumference prenatally or at birth that falls below three standard deviations from age\u2010, ethnic\u2010, and sex\u2010specific norms. Genetic defects are one of the underlying causes of primary microcephaly. Since 2014, five variants of the <jats:italic>SASS6<\/jats:italic> gene have been identified as the cause of MCPH 14 in three reported families. In this study, we present the genetic findings of members of a nonconsanguineous Chinese couple with a history of microcephaly and fetal growth restriction (FGR) during their first pregnancy. Utilizing trio whole\u2010exome sequencing, we identified compound heterozygous variants involving a frameshift NM_194292.3:c.450_453del p.(Lys150AsnfsTer7) variant and a splice region NM_194292.3:c.1674+3A&gt;G variant within the <jats:italic>SASS6<\/jats:italic> gene in the affected fetus. Moreover, reverse transcriptase\u2010polymerase chain reaction from RNA of the mother's peripheral blood leukocytes revealed that the c.1674+3A&gt;G variant led to the skipping of exon 14 and an inframe deletion. To the best of our knowledge, the association between FGR and <jats:italic>SASS6<\/jats:italic>\u2010related microcephaly has not been reported, and our findings confirm the pivotal role of <jats:italic>SASS6<\/jats:italic> in microcephaly pathogenesis and reveal an expanded view of the phenotype and mutation spectrum associated with this gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.63598","type":"journal-article","created":{"date-parts":[[2024,3,19]],"date-time":"2024-03-19T12:44:10Z","timestamp":1710852250000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel biallelic <i>SASS6<\/i> variants associated with primary microcephaly and fetal growth restriction"],"prefix":"10.1002","volume":"194","author":[{"given":"Xiangtian","family":"Kong","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Affiliated Maternity and Child Health Care Hospital of Nantong University  Nantong 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Child Health Care Hospital of Nantong University  Nantong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aimin","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Affiliated Maternity and Child Health Care Hospital of Nantong University  Nantong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3189-361X","authenticated-orcid":false,"given":"Xueqian","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Affiliated Maternity and Child Health Care Hospital of Nantong University  Nantong China"},{"name":"Nantong Institute of Genetics and Reproductive Medicine, Affiliated Maternity and Child Health Care Hospital of Nantong University  Nantong 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