Cohen syndrome

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A cause of Cohen syndrome (Cohen's syndrome) is mutation of the VPS13B gene on chromosome 8q22 that codes for the 4022 amino acid vacuolar protein sorting-associated protein 13B which is widely expressed with multiple transcripts. Some, if not all, of the isoforms appear to be involved in protein sorting in post Golgi membrane traffic[1].

Variations in VPS13B are associated with familial autism[2], higher amounts of low-density lipoprotein cholesterol (LDL-C) [3] and possibly osteoporosis [4].

Cohen syndrome in some ways resembles some with autism spectrum disorder. Phenotype is[5]:

  • Autosomal recessive
  • Obesity
  • Hypotonia
  • Delayed development
  • Neutropenia
  • Craniofacial dysmorphism with high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline
  • Abnormalities of the hands and feet


External links

References

  1. Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. The Journal of biological chemistry. 2011 Oct 28; 286(43):37665-75.(Link to article – subscription may be required.)
  2. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73.(Link to article – subscription may be required.)
  3. Foulkes AS, Matthews GJ, Das U, Ferguson JF, Lin R, Reilly MP. Mixed modeling of meta-analysis P-values (MixMAP) suggests multiple novel gene loci for low density lipoprotein cholesterol. PloS one. 2013; 8(2):e54812.(Link to article – subscription may be required.)
  4. Deng FY, Zhao LJ, Pei YF, Sha BY, Liu XG, Yan H, Wang L, Yang TL, Recker RR, Papasian CJ, Deng HW. Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 2010 Apr; 21(4):579-87.(Link to article – subscription may be required.)
  5. El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. European journal of human genetics : EJHG. 2013 Jul; 21(7):736-42.(Link to article – subscription may be required.)
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