Cohen Syndrome: Review of the Literature

Rodrigues, J.; Fernandes, Hermina D; Caruthers, Carrie; Braddock, Stephen R.; Knutsen, Alan P.

doi:10.7759/cureus.3330

Cited by 46 publications

(77 citation statements)

References 44 publications

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“…The birth weight of patient was not signi cantly abnormal compared with normal newborns. The weight of patient won't increase because of the poor feeding caused by muscular hypotonia, so infant patients often show poor weight gain rather than typical facial features [17]. Just one case of bilateral strabismus in CS was reported in China [18], However, due to the absence of fundus examination and obvious clinical heterogeneity among patients with CS, it is impossible to determine whether there is damage to photoreceptor cilia and integrity of retinal structure [19].…”

Section: Discussionmentioning

confidence: 99%

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Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

Sun

et al. 2020

Preprint

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BackgroundCohen syndrome is a multisystem autosomal recessive hereditary disease, which is caused by variants of the VPS13B gene. The clinical manifestations include characteristic facial features, microcephaly, trunk obesity and mental retardation. The SLC26A4 gene encodes an anion transporter called Pendrin, the variants of SLC26A4 lead to deafness, Pendred syndrome and enlarged vestibular aqueduct. We presence a case of multiple genetic homozygous variants of SLC26A4 and VPS13B.Case presentationIn this study, we described a case of a 65-day-old female infant presenting with hearing loss and poor feeding. The deafness gene screening before admission showed that the patient carried homozygous c.919-2A>G variation of SLC26A4 gene. The symptoms of the patient did not improve significantly after a period of targeted treatment, then the possibility of genetic diseases was considered after consultation with the different departments. Whole exome sequencing was performed, and homozygous splicing variants in intron 38 (c.6940+1G>T) of VPS13B and that in intron 7 (c.919-2A>G) of SLC26A4 were identified. Later, the parent was proved as the carriers of VPS13B and SLC26A4 heterozygous variations by Sanger sequencing.ConclusionsPresence of multiple genetic homozygous variants of SLC26A4 and VPS13B, it is difficult to make an early diagnosis due to early atypical symptoms. Final diagnosis depends on whole exome sequencing which plays an important role in early diagnosis of intractable neonatal cases.

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Section: Discussionmentioning

confidence: 99%

“…Due to the early symptoms are atypical and the diagnosis is di cult, only this child is under 1 year of age, which proves the value of WES in early diagnose. Therefore, it is necessary to detect VPS13B gene when newborns exhibit microcephaly, hypotonia, neutropenia and developmental retardation [17].…”

Section: Discussionmentioning

confidence: 99%

Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

Sun

et al. 2020

Preprint

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“…Examples of ophthalmologic findings that have been reported in Cohen syndrome include microphthalmia, microcornea, bull's eye maculopathy, optic atrophy, cortical lens opacities, lens subluxation, wave-shaped palpebral fissures, coloboma and acute angle-closure glaucoma. Most commonly, vision becomes limited to counting fingers and light perception [9]. Management of the ophthalmologic manifestations generally relies on refractive correction with glasses, low vision training and annual comprehensive evaluation to monitor for progression of retinal dystrophy and appearance of other ocular complications that may arise.…”

Section: Introductionmentioning

confidence: 99%

Cystoid Macular Edema in a 10-Year-Old Boy With Cohen Syndrome

Liles¹,

Tensmeyer²,

York³

et al. 2020

Cureus

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Cohen syndrome is an extremely rare disease with characteristic somatic and multi-system features that severely affect vision. Ophthalmologists must consider Cohen syndrome when developmental delay, high-grade myopia, and retinal dystrophy are present in a child. Here we report a case of Cohen syndrome in a 10-year-old boy presenting with cystoid macular edema (CME), only the second reported case of its kind. This case illustrates the phenotypic variability that can occur in Cohen syndrome, with rare features in addition to CME including trace posterior subcapsular cataracts, growth hormone deficiency, mild vermian hypoplasia, a nasolacrimal cyst, hearing loss, and high-functioning intelligence quotient (IQ). Our patient did not have an identifiable second mutation even after extensive genetic testing, which raises questions about whether the patient has a novel gene variant for the disease or an autosomal dominant mode of inheritance exists for Cohen syndrome. In addition to peripheral vision loss, the rare appearance of macular edema can threaten the remaining vision and requires intervention. This case also demonstrates that, without a high index of suspicion, there can be considerable delay in diagnosing Cohen syndrome. Though little is known about the prevalence of many of the clinical features seen in our case in the Cohen syndrome population, this case raises awareness of the syndrome and the need to recognize various clinical features, perform genetic testing, and direct appropriate treatment to prevent complications and help improve quality of life.

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“…Cohen syndrome (CS; MIM # 216550) is a rare multisystem disorder caused by biallelic mutations in the vacuolar protein sorting 13 homolog B ( VPS13B ) gene (formerly designated COH1 ; MIM*607817) on chromosome 8q22.2 (Kolehmainen et al, ; Rodrigues, Fernandes, Caruthers, Braddock, & Knutsen, ; Seifert et al, ). Main clinical features include intellectual disability, microcephaly of prenatal or postnatal onset, truncal obesity, scoliosis, narrow hands, and characteristic facial appearance consisting of downslanting palpebral fissures, short philtrum, open mouth, prominent upper central incisors, maxillary hypoplasia, and mild micrognathia (Cohen, Hall, Smith, Graham, & Lampert, ; Kivitie‐Kallio & Norio, ; Rodrigues et al, ). Additional characteristics include progressive retinal dystrophy and intermittent congenital neutropenia.…”

Section: Introductionmentioning

confidence: 99%

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

Koehler

Schuelke

Hell

et al. 2019

American J of Med Genetics Pt A

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Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia. Additional, nonobligatory features include obesity, microcephaly, short stature, muscular hypotonia, scoliosis, narrow hands and feet, progressive retinopathy, as well as neutropenia. Here we report a novel homozygous nonsense mutation in the VPS13B gene and previously undescribed clinical features in a 19‐year‐old woman with developmental delay, intellectual disability, and a particular facial appearance. The patient showed several features consistent with CS. In addition, the parents observed congenital alacrima and anhidrosis persisting until onset of puberty. The diagnosis was not established based on the clinical phenotype. We performed whole‐genome sequencing and identified a novel homozygous nonsense mutation c.62T>G (NM_152564.4), p.(Leu21*) in the VPS13B gene. Our findings extended the previously reported phenotype of CS. We conclude that transient, prepubertal alacrima and anhidrosis are part of the phenotypic spectrum of CS associated with a novel homozygous nonsense mutation in the VPS13B gene.

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Cohen Syndrome: Review of the Literature

Cited by 46 publications

References 44 publications

Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

Cystoid Macular Edema in a 10-Year-Old Boy With Cohen Syndrome

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

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