{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T05:17:11Z","timestamp":1792819031442,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T00:00:00Z","timestamp":1588204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Society for the Relief of Disabled Children"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive or compound heterozygous mutations in <jats:italic>KLHL40<\/jats:italic> cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The <jats:italic>KLHL40<\/jats:italic> c.1516A&gt;C variant has recently been reported as a founder mutation in southern Chinese.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report six cases of nemaline myopathy 8 which involves the c.1516A&gt;C variant, from five unrelated families of non\u2010consanguineous southern Chinese. The pre\u2010 and postnatal phenotypes of these cases were reviewed with emphasis on prenatal clinical features. Genetic testing for the founder mutation was performed on three patients with homozygous mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Common prenatal features included reduced fetal movement, polyhydramnios, breech presentation, and clubfeet. Two pregnancies were terminated. Four live\u2010born patients had postnatal features typical of nemaline myopathy 8. The length of survival ranged from 49\u00a0days to 17\u00a0months, with respiratory failure and infections being the principal causes of death. Haplotype analysis in three patients with homozygous mutation showed a shared haplotype block of 1.1727\u00a0cM spanning over the c.1516A&gt;C variant, suggesting it is a southern Chinese\u2010specific founder mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Analysis of the <jats:italic>KLHL40<\/jats:italic> c.1516A&gt;C variant should be considered in prenatal diagnosis of Chinese pregnant patients with suspected congenital neuromuscular disorders or with significant family history of congenital myopathies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1229","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T18:50:06Z","timestamp":1588272606000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["The <i>KLHL40<\/i> c.1516A&gt;C is a Chinese\u2010specific founder mutation causing nemaline myopathy 8: Report of six patients with pre\u2010 and postnatal phenotypes"],"prefix":"10.1002","volume":"8","author":[{"given":"Kit San","family":"Yeung","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4922-434X","authenticated-orcid":false,"given":"Florrie N. Y.","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Elizabeth Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheuk Wing","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Hong Kong Children's Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Hong Kong Children's Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hencher H. C.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology Princess Margaret Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon T. H.","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Kwong Wah Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevieve P. G.","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine United Christian Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwok Yin","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Queen Elizabeth Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wai Hang","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology United Christian Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun Ting","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Princess Margaret Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian K. S.","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gyanecology Kwong Wah Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mullin H. C.","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine L. F.","family":"Fung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy H. Y.","family":"Tsang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelvin Y. K.","family":"Chan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory Department of Obstetrics and Gynaecology Tsan Yuk Hospital Hong Kong Special Administrative Region Hong Kong China"},{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2990-0163","authenticated-orcid":false,"given":"Sophelia H. S.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine The University of Hong Kong Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita S. Y.","family":"Kan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Laboratory Department of Obstetrics and Gynaecology Tsan Yuk Hospital Hong Kong Special Administrative Region Hong Kong China"},{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7044-5916","authenticated-orcid":false,"given":"Brian H. 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