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Journal of Neurorestoratology 2022, 10(2): 100003 https://doi.org/10.1016/j.jnrt.2022.100003
Case Report | Open Access | Issue | Published: 14 June 2022

Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Show Author's Information Shu-ying Cai1,  Pei Li1,  Shu-xiang Hu,  Hui-qiang Cai,  Wen-jie Li,  Gui-lan Peng( )
Department of Pediatric Neurological Rehabilitation, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361003, Fujian, China

1 These authors contributed equally to this work.

Keywords:
Mutation, Cohen syndrome, VPS13B, Phenotype
Cite this article:
Cai S-y, Li P, Hu S-x, et al. Cohen syndrome due to a novel VPS13B mutation in a Chinese family. Journal of Neurorestoratology, 2022, 10(2): 100003. https://doi.org/10.1016/j.jnrt.2022.100003
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Abstract Full text About this article

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.


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About this article

Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Show Author's information Shu-ying Cai1, Pei Li1, Shu-xiang Hu, Hui-qiang Cai, Wen-jie Li, Gui-lan Peng( )
Department of Pediatric Neurological Rehabilitation, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen 361003, Fujian, China

1 These authors contributed equally to this work.

Abstract

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.

Keywords: Mutation, Cohen syndrome, VPS13B, Phenotype

References(18)

1.
RodriguesJMFernandesHDCaruthersCCohen syndrome: review of the literatureCureus2018109e3330

Rodrigues JM, Fernandes HD, Caruthers C, et al. Cohen syndrome: review of the literature. Cureus. 2018, 10(9): e3330.

10.7759/cureus.3330
DOI Google Scholar
2.
CohenMMHallBDSmithDWA new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomaliesJ Pediatr197383228028410.13182/NSE73-A28198

Cohen MM Jr, Hall BD, Smith DW, et al. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr. 1973, 83(2): 280-284.
DOI Google Scholar
3.
AbeAYamamotoYKatsumiARearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21)Int J Hematol2018108220821210.1007/s12185-017-2387-x

Abe A, Yamamoto Y, Katsumi A, et al. Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21). Int J Hematol. 2018, 108(2): 208-212.
DOI Google Scholar
4.
KolehmainenJWilkinsonRLehesjokiAEDelineation of Cohen syndrome following a large-scale genotype-phenotype screenAm J Hum Genet2004751122127

Kolehmainen J, Wilkinson R, Lehesjoki AE, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet. 2004, 75(1): 122-127.

10.1086/422197
DOI Google Scholar
5.
CokkinosPGkouzioutaAKaravoliasGIdiopathic pulmonary arterial hypertension in a young patient with the Cohen syndromeHellenic J Cardiol2013542143146

Cokkinos P, Gkouziouta A, Karavolias G, et al. Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. Hellenic J Cardiol. 2013, 54(2): 143-146.
Google Scholar
6.
YangCQHouMLiYTGene analysis: a rare gene disease of intellectual deficiency-Cohen syndromeInt J Dev Neurosci201868838810.1016/j.ijdevneu.2018.05.004

Yang CQ, Hou M, Li YT, et al. Gene analysis: a rare gene disease of intellectual deficiency-Cohen syndrome. Int J Dev Neurosci. 2018, 68: 83-88.
DOI Google Scholar
7.
DastanJChijiwaCTangFExome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplicationBMC Med Genet201617178

Dastan J, Chijiwa C, Tang F, et al. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. BMC Med Genet. 2016, 17(1): 78.

10.1186/s12881-016-0340-0
DOI Google Scholar
8.
AlaluusuaSKivitie-KallioSWolfJPeriodontal findings in Cohen syndrome with chronic neutropeniaJ Periodontol199768547347810.1902/jop.1997.68.5.473

Alaluusua S, Kivitie-Kallio S, Wolf J, et al. Periodontal findings in Cohen syndrome with chronic neutropenia. J Periodontol. 1997, 68(5): 473-478.
DOI Google Scholar
9.

García-Ballesta C, Pérez-Lajarín L, Lillo OC, et al. New oral findings in Cohen syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003, 95(6): 681-687.
DOI Google Scholar
10.
LafonAFaivreLSeuxDPeriodontal disorders in a cohort of patients with Cohen syndromeSpec Care Dent202141111812410.1111/scd.12544

Lafon A, Faivre L, Seux D, et al. Periodontal disorders in a cohort of patients with Cohen syndrome. Spec Care Dent. 2021, 41(1): 118-124.
DOI Google Scholar
11.
ZhaoSLuoZQXiaoZHCase report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palmsBMC Med Genet2019201187

Zhao S, Luo ZQ, Xiao ZH, et al. Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms. BMC Med Genet. 2019, 20(1): 187.

10.1186/s12881-019-0920-x
DOI Google Scholar
12.
SeifertWKühnischJMaritzenTCohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowthJ Biol Chem2015290633493358

Seifert W, Kühnisch J, Maritzen T, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015, 290(6): 3349-3358.

10.1074/jbc.M114.608174
DOI Google Scholar
13.
MomtazmaneshSRayzanEShahkaramiSA novel VPS13B mutation in Cohen syndrome: a case report and review of literatureBMC Med Genet2020211140

Momtazmanesh S, Rayzan E, Shahkarami S, et al. A novel VPS13B mutation in Cohen syndrome: a case report and review of literature. BMC Med Genet. 2020, 21(1): 140.

10.1186/s12881-020-01075-1
DOI Google Scholar
14.
Kivitie-KallioSRajantieJJuvonenEGranulocytopenia in cohen syndromeBr J Haematol199798230831110.1046/j.1365-2141.1997.2323049.x

Kivitie-Kallio S, Rajantie J, Juvonen E, et al. Granulocytopenia in cohen syndrome. Br J Haematol. 1997, 98(2): 308-311.
DOI Google Scholar
15.
SeowWKBartoldPMThongYHCohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reportsPediatr Dent1998205350354

Seow WK, Bartold PM, Thong YH, et al. Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. Pediatr Dent. 1998, 20(5): 350-354.
Google Scholar
16.
MassaGDoomsLVanderschueren-LodeweyckxMGrowth hormone deficiency in a girl with the Cohen syndromeJ Med Genet1991281485010.1136/jmg.28.1.48

Massa G, Dooms L, Vanderschueren-Lodeweyckx M. Growth hormone deficiency in a girl with the Cohen syndrome. J Med Genet. 1991, 28(1): 48-50.
DOI Google Scholar
17.
ImagamaSTsujiTOharaTSurgical treatment for kyphoscoliosis in Cohen syndromeNagoya J Med Sci2013753/4279286

Imagama S, Tsuji T, Ohara T, et al. Surgical treatment for kyphoscoliosis in Cohen syndrome. Nagoya J Med Sci. 2013, 75(3/4): 279-286.
Google Scholar
18.
YinLhChengMmWangYxCase report of Cohen syndrome and literature review (in Chinese)Chin J Appl Clin Pediatr2016311914981499

Yin Lh, Cheng Mm, Wang Yx, et al. Case report of Cohen syndrome and literature review (in Chinese). Chin J Appl Clin Pediatr. 2016, 31(19): 1498-1499.
Google Scholar
Publication history
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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.

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

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