Cohen syndrome

A rare autosomal recessive disorder that occurs primarily in the Finnish population where it is characterized by non-progressive mild to severe psychomotor retardation, microcephaly, characteristic facial features (high-arched or wave-shaped eyelids, a short lip, thick hair, and low hairline), childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated NEUTROPENIA, and a cheerful disposition. Obesity, retinochoroidal dystrophy, and neutropenia are far less common in non-Finnish patients. Mutations in the VPS13B gene have been identified. OMIM: 216550

Also Known As:

Networked: 45 relevant articles (0 outcomes, 2 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Neutropenia
3.	Neuroacanthocytosis
4.	Parkinson Disease (Parkinson's Disease)
5.	Epilepsy (Aura)

Experts

1.	Blair, Edward: 3 articles (01/2019 - 05/2014)
2.	Carmignac, Virginie: 3 articles (01/2019 - 05/2014)
3.	Duplomb, Laurence: 3 articles (01/2019 - 05/2014)
4.	El Chehadeh-Djebbar, Salima: 3 articles (01/2019 - 05/2014)
5.	Faivre, Laurence: 3 articles (01/2019 - 05/2014)
6.	Jego, Gaëtan: 3 articles (01/2019 - 05/2014)
7.	Thauvin-Robinet, Christel: 3 articles (01/2019 - 05/2014)
8.	Tsuji, Shoji: 2 articles (01/2020 - 01/2020)
9.	Aral, Bernard: 2 articles (01/2019 - 05/2014)
10.	Delva, Laurent: 2 articles (01/2019 - 05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cohen syndrome:

1.	Mydriatics (Cycloplegics)IBA 09/01/2000 - "All but one were part of the Finnish study of refined mapping of the Cohen syndrome gene by linkage disequilibrium in chromosome 8. Visual acuity (VA), cycloplegic refraction, biomicroscopy, lens opacitometry, ophthalmoscopy, and fundus photography. " 05/01/2002 - "A cross-sectional study of 22 Finnish patients (age range, 2-57 years) with Cohen syndrome, which maps to chromosome 8q22, was undertaken to record cycloplegic refraction, keratometry (corneal power and radius of curvature), biometry (anterior chamber depth [ACD], lens thickness [LT], axial [AL] and vitreal length [VL]), and Hoffer Q-modeled lens power. "
2.	2-(4-toluidino)-6-naphthalenesulfonic acid (TNS)IBA 05/23/2011 - "TNS in Border collies is the first animal model for Cohen syndrome and can be used to study the disease aetiology." 05/23/2011 - "We chose VPS13B as a candidate because of similarities in clinical signs between TNS and Cohen syndrome, in human, such as neutropenia and a typical facial dysmorphism. " 05/23/2011 - "Cohen syndrome patients present with mental retardation in 99% of cases, but learning disabilities featured in less than half of TNS affected dogs. "
3.	Proteins (Proteins, Gene)FDA Link 12/01/2021 - "Cohen syndrome is caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2. The VPS13B protein is involved in transmembrane transport, Golgi integrity, and neuritogenesis. " 12/01/2015 - "Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation secondary to mutations in the VPS13B gene, which encodes a protein of the Golgi apparatus. " 02/06/2015 - "We conclude that COH1 is a RAB6 effector protein and that reduced brain size in Cohen syndrome patients likely results from impaired COH1 function at the Golgi complex, causing decreased neuritogenesis. " 03/01/2013 - "SHBY is a vacuolar sorting protein with similarity to the gene responsible for Cohen syndrome in humans. " 06/01/2003 - "Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport."
4.	Retinaldehyde (Retinal)IBA 10/01/2020 - "Ophthalmologic findings in 1 patient led to the work-up that resulted in a diagnosis of Cohen syndrome, suggesting that characteristic retinal abnormalities visualized by fundus examination and OCT may represent distinguishing features of this syndrome." 01/01/2018 - "To describe early structural and functional retinal changes in a patient with Cohen syndrome. " 09/01/1990 - "Based on these data, we hypothesize that two alleles at the gene locus for the Cohen syndrome exhibit different clinical manifestations: one is a Finnish type with mottled retina, and the other is a Jewish type without retinal anomalies." 01/01/2018 - "Photoreceptor outer segment abnormalities and retinoschisis may represent the earliest structural retinal change detected by spectral domain optical coherence tomography in patients with Cohen syndrome, suggesting a complex pathophysiology with primary involvement of the photoreceptor cilium and disorganization of the structural integrity of the inner retina." 10/01/1985 - "The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients."
5.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2021 - "Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome. " 01/01/2020 - "A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome." 09/01/2019 - "WES revealed a homozygous nonsense mutation (c.5492dup, p.Asn1831Lysfs*8) in VPS13B that is known to cause Cohen syndrome. "
6.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/01/2020 - "The patient is a 26-year-old male with Cohen syndrome who required long-term G-CSF treatment for chronic neutropenia. " 09/01/1998 - "Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports."
7.	Growth Hormone (Somatotropin)IBA 01/01/1991 - "It is concluded that growth hormone deficiency should be ruled out in patients with the Cohen syndrome and small stature." 01/01/1991 - "Growth hormone deficiency in a girl with the Cohen syndrome." 06/04/2020 - "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). "
8.	SaltsIBA 01/15/2014 - "'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. " 01/01/2023 - "Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome." 01/15/2014 - "A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation."
9.	GangliosidesIBA 01/01/2023 - "Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome." 01/15/2014 - "A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation."
10.	EnzymesIBA 01/01/2023 - "Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome." 01/15/2014 - "A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation."

Therapies and Procedures

1.	General Anesthesia 04/01/2022 - "General anesthesia was administered to a 23-year-old man with Cohen syndrome. " 04/01/2022 - "A Cohen syndrome patient whose muscle-relaxant effect may have been prolonged during general anesthesia: a case report." 09/01/2004 - "The administration of general anesthesia in patients with Cohen syndrome can be a challenge because most of these patients are mentally retarded and uncooperative and have facial malformations that may make intubation difficult. " 04/01/1995 - "The case of a 23 years old woman, affected by the Cohen syndrome, who underwent general anesthesia for extensive dental surgery, is reported. " 04/01/1995 - "[General anesthesia in Cohen syndrome. "
2.	Airway Management 04/01/2014 - "Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome)." 04/01/2022 - "As demonstrated in this case report, it is important to closely monitor recovery from muscle relaxation and prepare multiple techniques for airway management in general anesthesia management of patients with Cohen syndrome."
3.	Prostheses and Implants (Prosthesis) 01/01/2000 - "Abdominal expansion using a polytetrafluoroethylene prosthesis in the treatment of Pepper syndrome."
4.	Enamel Microabrasion 05/01/2008 - "Enamel microabrasion in an individual with Cohen syndrome."
5.	Ligation 10/01/2010 - "To investigate whether COH1 copy number changes account for missed mutations, we used multiplex ligation-dependent probe amplification (MLPA) to test a group of 14 patients with Cohen syndrome. "