Ocular findings in Brazilian identical twins with Cohen syndrome: case report

Rim, Priscila Hae Hyun; Figueirêdo, Eugênio Santana de; Hirata, Fábio Endo; Steiner, Carlos Eduardo; Marques-de-Faria, Antônia Paula

doi:10.1590/s0004-27492009000600014

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…In our case, prophylaxis of cotrimoxazole 80 mg/400 mg had been prescribed since her first visit but it has been discontinued since 3 months before her last visit. Moreover, eye examination, cardiac, and nephrological monitoring should be prescribed because of being high‐risk factors in CS 2 …”

Section: Discussionmentioning

confidence: 99%

“…Moreover, eye examination, cardiac, and nephrological monitoring should be prescribed because of being high-risk factors in CS. 2…”

Section: F I G U R E 3 Tiny Petechial Spots On Her Lower Limbs In Cs Patientmentioning

confidence: 99%

“…Cohen syndrome (CS) a rare disorder was originally identified in 1973 by Cohen Jr et al 1 CS (MIM n.216550) is a rare autosomal recessive disorder caused by mutations in the gene COH1 on chromosome 8q22. 2 CS is a clinically heterogeneous condition with widely variable clinical manifestations such as myopia, retinal dystrophy, neutropenia, facial appearance consisting of thick hair, thick eyebrows, long eyelashes, down-slanting pupils, narrow philtrum, and prominent upper incisors, mostly marked by developmental regression, microcephaly, and hypotonic. 1 In infancy, the diagnosis is often difficult because many of the usual characteristics can be nonexistent before scholarization or upcoming years and sporadic neutropenia are not reliably detectable.…”

Section: Introductionmentioning

confidence: 99%

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A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

Razavi

Jafarpour

Khosravi

et al. 2021

Clinical Case Reports

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Section: Discussionmentioning

confidence: 99%

“…Moreover, eye examination, cardiac, and nephrological monitoring should be prescribed because of being high-risk factors in CS. 2…”

Section: F I G U R E 3 Tiny Petechial Spots On Her Lower Limbs In Cs Patientmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

Razavi

Jafarpour

Khosravi

et al. 2021

Clinical Case Reports

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Síndrome de Cohen diagnosticado con hibridación genómica comparativa por microarreglos

Saldarriaga

Ramírez-Cheyne

2017

iatreia

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RESUMENEl síndrome de Cohen (SC) es una enfermedad genética rara, con herencia autosómica recesiva. Se origina por daños en el gen VPS13B, locus 8q22-q23. El fenotipo característico consiste en discapacidad intelectual, microcefalia, facies dismórfica, anormalidades oftalmológicas, obesidad central e hipotonía. Solo se han publicado aproximadamente 150 casos, la mayoría de origen finlandés. Reportamos el caso de un preescolar con talla baja, craneosinostosis, facies dismórfica, hipotonía y retraso del desarrollo psicomotor a quien se le diagnosticó SC por medio de Hibridación Genómica Comparativa por microarreglos (HGCm), que mostró una deleción en homocigosis de 0.153 Mb en 8q22.2 incluyendo el gen VPS13B, OMIM #216550. Con esta publicación contribuimos al conocimiento epidemiológico de un síndrome genético infrecuente, y mostramos el aporte de la HGCm al diagnóstico etiológico de pacientes con discapacidad intelectual inexplicada, retardo del desarrollo psicomotor, problemas del lenguaje, autismo y anomalías congénitas múltiples. PALABRAS CLAVECromosomas Humanos par 8; Discapacidad Intelectual; Hibridación Genómica Comparativa; Hipotonía; Trastornos de los Cromosomas SUMMARYCohen syndrome diagnosed using microarray comparative genomic hibridization Cohen syndrome (CS) is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual

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Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients

Shnaider,

Khabarova,

Morozova

et al. 2023

Cells

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Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dystrophy, neutropenia, and obesity. VPS13B regulates intracellular membrane transport and supports the Golgi apparatus structure, which is critical for neuron formation. We generated induced pluripotent stem cells from two patients with pronounced manifestations of Cohen syndrome and differentiated them into neural stem cells and neurons. Using transmission electron microscopy, we documented multiple new ultrastructural changes associated with Cohen syndrome in the neuronal cells. We discovered considerable disturbances in the structure of some organelles: Golgi apparatus fragmentation and swelling, endoplasmic reticulum structural reorganization, mitochondrial defects, and the accumulation of large autophagosomes with undigested contents. These abnormalities underline the ultrastructural similarity of Cohen syndrome to many neurodegenerative diseases. The cell models that we developed based on patient-specific induced pluripotent stem cells can serve to uncover not only neurodegenerative processes, but the causes of intellectual disability in general.

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Ocular findings in Brazilian identical twins with Cohen syndrome: case report

Cited by 3 publications

References 9 publications

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

Síndrome de Cohen diagnosticado con hibridación genómica comparativa por microarreglos

Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients

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