Combined homozygous HACE1 and TBCD variants in two siblings with severe early-onset neurodevelopmental disorder: Two case reports

doi:10.12998/wjcc.120750

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Clin Cases. Jul 6, 2026; 14(19): 120750
Published online Jul 6, 2026. doi: 10.12998/wjcc.120750

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Figure 2 Sanger sequencing. A-D: HACE1 c.625C>T (p.Gln209*) variant: Homozygous in both affected siblings (A and D) and heterozygous in both parents (B and C); E-H: TBCD c.2139T>A (p.His713Gln) variant: Homozygous in both affected siblings (E and H) and heterozygous in both parents (F and G).

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
URL: https://www.wjgnet.com/2307-8960/full/v14/i19/120750.htm
DOI: https://dx.doi.org/10.12998/wjcc.120750

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 [DOI: 10.12998/wjcc.120750]

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