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Academic Editors: Andrea L. Gropman, Sanjay Gupta | Copy Editor: Fangling Lan | Production Editor: Fangling Lan

"}],"body":{},"articleExtMap":[{"ext":{"copyrightStatement":"© The Author(s) 2022.","authorNotesCorresp":["Correspondence to: J. Andres Morales, MD, Division of Medical Genetics, Pediatrics, Stanford University, 453 Quarry Road, Stanford, CA 94305, USA. E-mail: andresmc@stanford.edu."],"fundList":[],"articleAbstract":"

Sterol C4-methyloxidase-like (SC4MOL) deficiency is an autosomal recessive condition caused by biallelic pathogenic variants in MSMO1, resulting in the accumulation of 4-monomethyl and 4,4′-dimethyl sterols due to an enzymatic block in the cholesterol synthesis pathway. SC4MOL deficiency was first reported in 2011, with only seven additional cases from five unrelated families described in the literature since. Based on these reports, the most characteristic clinical features include the triad of microcephaly, congenital cataracts, and psoriatic dermatitis, followed by delayed growth and puberty, and neurodevelopmental problems. Herein, we describe an 8-year-old boy who presented with congenital cataracts and developmental delay at age 6 months and was found to have biallelic variants in MSMO1 by trio exome sequencing. Initial total methylsterol levels were elevated but responsive to statin therapy, while total cholesterol levels remained normal throughout. Available clinical and biochemical data suggest this individual could represent the mildest case of SC4MOL deficiency to date.

","title":"Clinical characterization of a new individual with mild SC4MOL deficiency: diagnostic and therapeutic implications","copyrightLicense":"© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.","authenticationList":[],"leadEditorList":[],"translatorList":[],"lang":"en","editorList":[],"chiefEditorList":[],"authorNotes":["Correspondence to: J. Andres Morales, MD, Division of Medical Genetics, Pediatrics, Stanford University, 453 Quarry Road, Stanford, CA 94305, USA. E-mail: andresmc@stanford.edu.","

Academic Editors: Andrea L. Gropman, Sanjay Gupta | Copy Editor: Fangling Lan | Production Editor: Fangling Lan

"],"authorNotesCommon":["

Academic Editors: Andrea L. Gropman, Sanjay Gupta | Copy Editor: Fangling Lan | Production Editor: Fangling Lan

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Andres","surname":"Morales","name":"J. Andres Morales","lang":"en"},"lang":"en"}],"corresp":false},{"affIdList":["I2"],"deceased":false,"collab":false,"authorExtMap":[{"ext":{"xref":"2","givennames":"Cynthia J.","surname":"Curry","name":"Cynthia J. Curry","lang":"en"},"lang":"en"}],"corresp":false},{"affIdList":["I1"],"deceased":false,"collab":false,"authorExtMap":[{"ext":{"xref":"1","givennames":"Christina G.","surname":"Tise","name":"Christina G. Tise","lang":"en"},"lang":"en"}],"corresp":false},{"affIdList":["I3"],"deceased":false,"collab":false,"authorExtMap":[{"ext":{"xref":"3","givennames":"Lisa","surname":"Kratz","name":"Lisa Kratz","lang":"en"},"lang":"en"}],"corresp":false},{"affIdList":["I1"],"deceased":false,"collab":false,"authorExtMap":[{"ext":{"xref":"1","givennames":"Gregory M.","surname":"Enns","name":"Gregory M. Enns","lang":"en"},"lang":"en"}],"corresp":false}],"appList":[{"appExtMap":[{"ext":{"lang":"en","title":""},"lang":"en"},{"ext":{"lang":"zh","title":""},"lang":"zh"}],"content":"
DECLARATIONS Acknowledgement

We would like to thank Richard I. Kelley, MD, PhD for the design and management of this patient’s statin therapy, the patient and his family, as well as the team of healthcare providers involved in this patient’s care.

Authors’ contributions

Clinical care, conceptualization, methodology, writing of original draft, review and editing: Morales JA

Clinical care, supervision, review and editing: Curry CJ

Review and editing: Tise CG

Sterol measurements, resources, review and editing: Kratz L

Clinical care, supervision, review and editing: Enns GM

Availability of data and materials

The data that support the findings of this study are available upon request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

Financial support and sponsorship

None.

Conflicts of interest

All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate

Not applicable.

Consent for publication

A written informed consent was reviewed and obtained from the proband’s parents.

Copyright

© The Author(s) 2022.

"}],"epubDate":"2022-06-02","revised":"2022-04-19","doi":"10.20517/jtgg.2022.01"},"hasBody":false},"listData":null,"total":null,"pageNum":null,"pageSize":null,"totalPage":null}