Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome

Güneş, Nilay; Alkaya, Dilek Uludağ; Demirbilek, Veysi; Yalçınkaya, Cengiz; Tüysüz, Beyhan

doi:10.1016/j.jpeds.2022.08.052

Cited by 7 publications

(6 citation statements)

References 26 publications

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“…Most reported cases indicate that ocular anomalies are common among patients with Cohen syndrome. In a clinical cohort study [22], Nilay Güneş et al found that retinopathy (11/11) and neutropenia (11/12) were the most common clinical manifestations of Cohen syndrome. In a retrospective review, Chandler et al found that vision issues were present in all 22 patients with Cohen syndrome, with onset typically in preschool [23].…”

Section: Discussionmentioning

confidence: 99%

WITHDRAWN: Pigmented paravenous retinochoroidal atrophy caused by VPS13B gene mutations: a case report

Yang,

Zheng,

Wang

et al. 2023

Preprint

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Background This study utilizes multimodal imaging to detail a case of pigmented paravenous retinochoroidal atrophy (PPRCA) with a unique genetic backdrop: compound heterozygous mutations in the VPS13B gene. Case presentation A 17-year-old male patient presented to our clinic with a chief complaint of bilateral blurred vision persisting for a duration of 2 years. Funduscopic findings showed retinochoroidal atrophy along the retinal veins, bone-spicule retinal pigmentations, and waxy optic disc pallor. Asymmetrical fundus appeared in both eyes. The patient's father had a history of retinitis pigmentosa (RP). Whole-exome sequencing performed on the patient, complemented by Sanger sequencing of his parents' samples, validated the identified variants. The patient inherited a VPS13B c.10691T>C mutation from his mother and a VPS13Bc.1457T>G mutation from his father. Considering the typical clinical features, ophthalmic examination, and genetic analysis, he was diagnosed with PPRCA. Conclusions To our knowledge, this is the first reported case of PPRCA resulting from compound heterozygous mutations in the VPS13B gene. It is necessary to perform genomic sequencing on more PPRCA patients to explore the impact of genetic factors on the onset of PPRCA.

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Section: Discussionmentioning

confidence: 99%

WITHDRAWN: Pigmented paravenous retinochoroidal atrophy caused by VPS13B gene mutations: a case report

Yang,

Zheng,

Wang

et al. 2023

Preprint

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“…Thus, neutropenia can be presented as one of the phenotypes of syndromic diseases [ 53 ]. To understand the role of neutrophils in oral ulcers, only CNs without other hematologic defects are listed in Table 1 [ [53] , [54] , [55] , [56] , [57] , [58] , [59] , [60] , [61] , [62] , [63] , [64] , [65] , [66] , [67] , [68] , [69] , [70] , [71] , [72] , [73] , [74] , [75] , [76] , [77] , [78] , [79] , [80] , [81] , [82] , [83] , [84] , [85] , [86] , [87] , [88] , [89] , [90] , [91] , [92] , [93] , [94] , [95] , [96] , [97] , [98] , [99] , [100] , [101] , [102] , [103] , [104] ]. The detailed molecular pathogenesis of CNs is beyond the scope of this review and can be found in other reviews [ 53 , 54 ].…”

Section: Defects In Neutrophil Counts or Function And Involvement Of ...mentioning

confidence: 99%

“…In Cohen syndrome, mild to moderate neutropenia is a common feature of disease, together with craniofacial, ocular, and limb anomalies, infantile hypotonia, and developmental delay [ 72 ]. Some patients experience recurrent infections, recurrent oral ulcers, or gingivitis, but no severe infections [ 73 , 74 ]. Poikiloderma with neutropenia is a very rare genetic disorder characterized by poikiloderma, pachyonychia, and chronic neutropenia.…”

Section: Defects In Neutrophil Counts or Function And Involvement Of ...mentioning

confidence: 99%

Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis

Choi

2024

Heliyon

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“…Children with Cohen syndrome typically present global developmental delay and learning difficulties [ 4 , 10 ]. There is typically significant weight gain, particularly in the truncal region, in mid-childhood, and virtually all patients >8 years old are truncally obese with comparatively slim limbs [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy

Curado Vilares Morgado,

Ferreira,

Santos-Silva

et al. 2023

Case Rep Ophthalmol

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The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery. Systemic history included facial dysmorphism, intellectual disability, transient neutropenia, microcephaly, truncal obesity, and joint hyperextensibility. The patient presented classic fundoscopic features of pigmentary retinopathy in both eyes (OU). Optical coherence tomography (OCT) revealed bilateral central and diffuse retinal pigment epithelium (RPE) and outer retinal atrophy without concomitant macular edema, while fluorescein angiography (FA) demonstrated diffuse RPE atrophy with prominent choroidal vessels. The full-field ERG (ffERG) showed no dark-adapted or light-adapted responses and the P50 wave was not identified in the pattern ERG (pERG). The genetic study revealed two novel heterozygous variants in the VPS13B gene: (1) c.5138T>C p.(Leu1713Pro) and (2) c.10179del p.(Asn3393Lysfs*37), thus confirming the diagnosis of Cohen syndrome. This case report introduces these two novel genetic variants to the literature, in a patient with classic phenotypic characteristics of Cohen syndrome, a rare genetic disease which has been increasingly reported since its first description in 1973.

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Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome

Cited by 7 publications

References 26 publications

WITHDRAWN: Pigmented paravenous retinochoroidal atrophy caused by VPS13B gene mutations: a case report

WITHDRAWN: Pigmented paravenous retinochoroidal atrophy caused by VPS13B gene mutations: a case report

Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy

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