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Article: The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

TitleThe KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
Authors
KeywordsChinese
founder mutation
KLHL40
nemaline myopathy
Issue Date2020
PublisherWiley Open Access. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2324-9269
Citation
Molecular Genetics & Genomic Medicine, 2020, Epub 2020-04-30 How to Cite?
AbstractBackground: Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese. Methods: We report six cases of nemaline myopathy 8 which involves the c.1516A>C variant, from five unrelated families of non‐consanguineous southern Chinese. The pre‐ 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. Results: Common prenatal features included reduced fetal movement, polyhydramnios, breech presentation, and clubfeet. Two pregnancies were terminated. Four live‐born patients had postnatal features typical of nemaline myopathy 8. The length of survival ranged from 49 days to 17 months, 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 cM spanning over the c.1516A>C variant, suggesting it is a southern Chinese‐specific founder mutation. Conclusion: Analysis of the KLHL40 c.1516A>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.
Persistent Identifierhttp://hdl.handle.net/10722/282531
ISSN
2019 Impact Factor: 1.995

 

DC FieldValueLanguage
dc.contributor.authorYeung, KS-
dc.contributor.authorYu, FNY-
dc.contributor.authorFung, CW-
dc.contributor.authorWong, S-
dc.contributor.authorLee, HCH-
dc.contributor.authorFung, STH-
dc.contributor.authorFung, GPG-
dc.contributor.authorLeung, KY-
dc.contributor.authorChung, WH-
dc.contributor.authorLee, YT-
dc.contributor.authorNg, VKS-
dc.contributor.authorYU, HC-
dc.contributor.authorFung, JLF-
dc.contributor.authorTSANG, MHY-
dc.contributor.authorChan, KYK-
dc.contributor.authorChan, SHS-
dc.contributor.authorKan, ASY-
dc.contributor.authorChung, BHY-
dc.date.accessioned2020-05-15T05:29:19Z-
dc.date.available2020-05-15T05:29:19Z-
dc.date.issued2020-
dc.identifier.citationMolecular Genetics & Genomic Medicine, 2020, Epub 2020-04-30-
dc.identifier.issn2324-9269-
dc.identifier.urihttp://hdl.handle.net/10722/282531-
dc.description.abstractBackground: Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese. Methods: We report six cases of nemaline myopathy 8 which involves the c.1516A>C variant, from five unrelated families of non‐consanguineous southern Chinese. The pre‐ 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. Results: Common prenatal features included reduced fetal movement, polyhydramnios, breech presentation, and clubfeet. Two pregnancies were terminated. Four live‐born patients had postnatal features typical of nemaline myopathy 8. The length of survival ranged from 49 days to 17 months, 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 cM spanning over the c.1516A>C variant, suggesting it is a southern Chinese‐specific founder mutation. Conclusion: Analysis of the KLHL40 c.1516A>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.-
dc.languageeng-
dc.publisherWiley Open Access. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2324-9269-
dc.relation.ispartofMolecular Genetics & Genomic Medicine-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectChinese-
dc.subjectfounder mutation-
dc.subjectKLHL40-
dc.subjectnemaline myopathy-
dc.titleThe KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes-
dc.typeArticle-
dc.identifier.emailYeung, KS: ksyyeung@hku.hk-
dc.identifier.emailFung, CW: fcw1209m@HKUCC-COM.hku.hk-
dc.identifier.emailFung, JLF: jasflf@connect.hku.hk-
dc.identifier.emailChan, KYK: ykchanc@hku.hk-
dc.identifier.emailChan, SHS: sophehs@hku.hk-
dc.identifier.emailKan, ASY: kansya@hkucc.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChan, KYK=rp00453-
dc.identifier.authorityChan, SHS=rp02210-
dc.identifier.authorityChung, BHY=rp00473-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1002/mgg3.1229-
dc.identifier.scopuseid_2-s2.0-85084242420-
dc.identifier.hkuros309880-
dc.identifier.volumeEpub 2020-04-30-
dc.publisher.placeUnited Kingdom-

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