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Articles Published Processes
7/2/2026 8:02:09 AM | Browse: 2 | Download: 0
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Received |
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2026-03-09 06:19 |
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Peer-Review Started |
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2026-03-09 06:20 |
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First Decision by Editorial Office Director |
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2026-04-21 09:47 |
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Return for Revision |
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2026-04-21 09:47 |
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Revised |
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2026-05-12 19:40 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2026-05-27 02:43 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2026-05-27 07:16 |
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Articles in Press |
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2026-05-27 07:16 |
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Edit the Manuscript by Language Editor |
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2026-06-02 20:40 |
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Typeset the Manuscript |
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2026-06-23 00:18 |
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Publish the Manuscript Online |
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2026-07-02 08:02 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
©Author(s) (or their employer(s)) 2026. No commercial re-use. See Permissions. Published by Baishideng Publishing Group Inc. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Combined homozygous HACE1 and TBCD variants in two siblings with severe early-onset neurodevelopmental disorder: Two case reports
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Polina R Korzun, Jeyla O Binnatova, Kristina S Malysheva, Sergey A Laptiev, Anastasiya S Abuzova, Anastasiya O Kipyatkova, Olga A Kuznetsova, Elena A Yefet, Damir A Malekov, Evgeny N Imyanitov and Evgeny N Suspitsin |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Russian Science Foundation |
24-45-00067 |
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| Corresponding Author |
Evgeny N Suspitsin, MD, PhD, Department of Medical Genetics, St. Petersburg State Pediatric Medical University, Litovskaya St., 2, St.-Petersburg 194100, Russia. evgeny.suspitsin@gmail.com |
| Key Words |
HACE1; TBCD; Spastic paraplegia; Psychomotor retardation; Epileptic encephalopathy; Brain atrophy; Corpus callosum hypoplasia; Neurodevelopmental disorder; Pediatrics; Case report |
| Core Tip |
This report describes two brothers sharing homozygous variants in HACE1 and TBCD genes. Both siblings have profound developmental delay, spastic tetraparesis, early-onset epileptic encephalopathy, and marked cerebral and cerebellar atrophy with corpus callosum hypoplasia. The truncating HACE1 c.625C>T variant explains the phenotype compatible with spastic paraplegia and psychomotor retardation with or without seizures, whereas the previously unreported TBCD c.2139T>A allele is unlikely to be causal based on its high prevalence in Chechens and in silico predictions. This report underscores the challenges related to genetic diagnosis of overlapping neurogenetic syndromes, particularly in specific ethnic communities, and exemplifies the value of exome-based testing in early-onset encephalopathy. |
| Publish Date |
2026-07-02 08:02 |
| Citation |
Korzun PR, Binnatova JO, Malysheva KS, Laptiev SA, Abuzova AS, Kipyatkova AO, Kuznetsova OA, Yefet EA, Malekov DA, Imyanitov EN, Suspitsin EN. Combined homozygous HACE1 and TBCD variants in two siblings with severe early-onset neurodevelopmental disorder: Two case reports. World J Clin Cases 2026; 14(19): 120750
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| URL |
https://www.wjgnet.com/2307-8960/full/v14/i19/120750.htm |
| DOI |
https://doi.org/10.12998/wjcc.120750 |
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