WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/15 01:22:18」(JST)

wiki en

Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder.

Genetics

This syndrome is believed to be a gene mutation in chromosome 8 at locus 8q22 gene COH1.^[1] Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression.^[2]

Clinical

Cohen syndrome is diagnosed by clinical examination, but often difficult due to variation in expression.

Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.

General appearance is obesity with thin/elongated arms and legs. Micrognathia, short philtrum, and high vaulted palate are common. Variable mental retardation with occasional seizure and deafness also is characteristic of Cohen syndrome.

Case reports

One case of Cohen Syndrome, in a Palestinian boy from Tul-Karem, was reported in the Israeli monthly Kol Israel BeAsakim (in Hebrew) in the December 2007 issue. Over the past several years there have been approximately 50 new cases world wide. There are cells in Australia, the UK and the US. It still seems to go undiagnosed leaving the number of cases less than 500.

References

^ Kolehmainen J, Black GC, Saarinen A, et al. (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". Am. J. Hum. Genet. 72 (6): 1359–69. doi:10.1086/375454. PMC 1180298. PMID 12730828.
^ Kivitie-Kallio S, Norio R (2001). "Cohen syndrome: essential features, natural history, and heterogeneity". Am. J. Med. Genet. 102 (2): 125–35. doi:10.1002/1096-8628(20010801)102:2<125::AID-AJMG1439>3.0.CO;2-0. PMID 11477603.

External links

Cohen Syndrome association
GeneReview/NIH/UW entry on Cohen syndrome

Facebook has a very active page for families of Cohen Syndrome. "Parents of children with Cohen Syndrome".

Most families are very open to helping new families.

The families gather every other year. Usually in Ohio. 2014 meeting at Highbrook Lodge outside of Cleveland June 19-21.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性好中球減少症 congenital neutropenia
2. 小児における知的障害（精神遅滞）：定義、診断、およびニーズの評価 intellectual disability mental retardation in children definition diagnosis and assessment of needs
3. 肥満の小児および思春期の臨床的評価 clinical evaluation of the obese child and adolescent
4. 小児における歯周病：関連する全身疾患 periodontal disease in children associated systemic conditions
5. 膀胱尿管逆流のマネージメント management of vesicoureteral reflux

English Journal

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Rafiq MA1,2, Leblond CS3,4, Saqib MA5, Vincent AK6, Ambalavanan A7,8, Khan FS9, Ayaz M10, Shaheen N11, Spiegelman D12,13, Ali G14, Amin-Ud-Din M15, Laurent S16,17, Mahmood H18, Christian M19, Ali N20, Fennell A21, Nanjiani Z22, Egger G23,24, Caron C25,26, Waqas A27, Ayub M28,29, Rasheed S30, Forgeot d'Arc B31,32,33, Johnson A34,35, So J36,37,38, Brohi MQ39, Mottron L40,41,42, Ansar M43, Vincent JB44,45, Xiong L46,47,48.
BMC medical genetics.BMC Med Genet.2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0.
BACKGROUND: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.METHODS: Clinical assessments were
PMID 26104215

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin I1, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
Clinical & experimental ophthalmology.Clin Experiment Ophthalmol.2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2.
BACKGROUND: Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations including developmental delay, acquired microcephaly, myo
PMID 25060287

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

Seifert W1, Kühnisch J2, Maritzen T3, Lommatzsch S4, Hennies HC5, Bachmann S4, Horn D6, Haucke V3.
The Journal of biological chemistry.J Biol Chem.2015 Feb 6;290(6):3349-58. doi: 10.1074/jbc.M114.608174. Epub 2014 Dec 9.
Postnatal microcephaly, intellectual disability, and progressive retinal dystrophy are major features of autosomal recessive Cohen syndrome, which is caused by mutations in the gene COH1 (VPS13B). We have recently identified COH1 as a Golgi-enriched scaffold protein that contributes to the structura
PMID 25492866