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Erratum. Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity

Roy W. R. Dudley Montreal Children’s Hospital, McGill University Health Centre Research Institute, Montréal, QC, Canada

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MD, PhD
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TO THE READERSHIP: An error appeared in the article by Gayden et al. (Gayden T, Crevier-Sorbo G, Jawhar W, et al. Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.J Neurosurg Pediatr. 2023;31[6]:584-592).

A typographical error in the name of gene mutation appears throughout the article. The mutation "c.469C>A" should be "c.496C>A."

In the开云体育世界杯赔率section of the abstract, the mutation name was corrected in the following sentence:

In this study, the authors detected a novel variant, c.496C>A inTRPV4, exclusively in the four affected family members.

In theResultssection of the abstract, the mutation name was corrected in the following sentence:

The authors identified a novel, highly penetrant heterozygous variant inTRPV4(NM_021625.4:c.496C>A) causing nonsyndromic CS in a mother and all three of her children.

In the last paragraph of the introduction, the mutation name was corrected in the following sentence:

Using whole-exome sequencing (WES), we detected a novel variant inTRPV4, NM_021625.4:c.496C>A, in four members of a family with nonsyndromic CS displaying complete penetrance but variable expressivity.9,10

In the sectionPreparation of Plasmids, the mutation name was corrected in the following sentence:

A TRPV4 L166M (c.496C>A) mutant was generated by polymerase chain reaction–based site-directed mutagenesis of the TRPV4 WT construct using the In-Fusion cloning kit.

In the Fig. 1 legend, the mutation name was corrected in the following sentence:

Head CT scan imaging and pedigree for family with CS andTRPV4496C>A mutation.

In the sectionGenetic Studies, the mutation name was corrected in the following sentence:

TheTRPV4variant, NM_021625.4:c.496C>A, p.Leu166Met, was exclusively identified in all four affected members of the family, but not in the father (Fig. 2).

The article has been corrected online as of August 4, 2023.

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