Journal Home > Volume 10 , Issue 2

We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Cohen syndrome. This case presented with manifestations consistent with Cohen syndrome, including developmental delay, microcephaly, typical facial features, short stature, muscle hypotonia, neutropenia, and abnormal dental development; however, the patient did not have the typical findings of obesity, myopia, progressive retinal dystrophy, or epilepsy. The patient had a homozygous nonsense mutation (NM_017890: c.4846C > T [p.R1616X]). His brother, sister, and parents are heterozygous for the mutation. This locus variation has not been previously reported in Chinese children. Different mutation sites have different phenotypes. Cohen syndrome caused by a homozygous nonsense mutation of the VPS13B c.4846C > T (p.R1616X) does not present with obesity, ophthalmic abnormalities, or epilepsy, but has abnormal dental development. This may be related to the premature termination of peptide synthesis caused by nonsense mutations at this site.

Publication history
Copyright
Acknowledgements
Rights and permissions

Publication history

Received: 09 January 2022
Revised: 28 February 2022
Accepted: 07 April 2022
Published: 14 June 2022
Issue date: June 2022

Copyright

© 2022 The Authors. Published by Elsevier Ltd on behalf of Tsinghua University Press.

Acknowledgements

We sincerely thank the patient's family for their kind support for this study.

Rights and permissions

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Return