Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 374-378

  Cohen, Idan ^a   Silberstein, Eldad ^b   Perez, Yonatan ^a   Landau, Daniella ^b   Elbedour, Khalil ^b   Langer, Yshaia ^a,b   Kadir, Rotem ^a   Volodarsky, Michael ^a   Sivan, Sara ^a   Narkis, Ginat ^a   Birk, Ohad S ^a,b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Adams Oliver syndrome; aplasia cutis; EOGT

Indexed keywords

ADOLESCENT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; EPIDERMAL GROWTH FACTOR; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; SCALP DERMATOSES;

EID: 84894330006     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.159     Document Type: Article

References (12)

1. Adams FH, Oliver CP: Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-7.
2. Snape KM, Ruddy D, Zenker M et al: The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149A: 1860-1881.
3. Southgate L, Machado RD, Snape KM et al: Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet 2009; 88: 574-585.
4. Shaheen R, Faqeih E, Sunker A et al: Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet 2011; 89: 328-333.
5. Hassed SJ, Wiley GB, Wang S et al: RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012; 91: 391-395.
6. Volodarsky M, Markus B, Cohen I et al: A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta. Hum Mutat 2013; 34: 582-586.
7. Cohen I, Birnbaum RY, Leibson K, Taube R, Sivan S, Birk OS: ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes. PLoS One 2012; 7: e42628.
8. Sakaidani Y, Ichiyanagi N, Saito C et al: O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1. Biochem Biophys Res Commun 2012; 419: 14-19.
9. Shaheen R, Aglan M, Keppler-Noreuil K et al: Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver Syndrome. Am J Hum Genet 2013; 92: 598-604.
10. Sakaidani Y, Nomura T, Matsuura A et al: O-linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell-matrix interactions. Nat Commun 2011; 2: 583.
11. Muller R, Jenny A, Stanley P: The EGF repeat-specific O-GlcNAc-transferase Eogt interacts with Notch signaling and pyrimidine metabolism pathways in Drosophila. PLoS One 2013; 8: e62835.
12. Alfaro JF, Gong CX, Monroe ME et al: Tandem mass spectrometry identifies many mouse brain O-GlcNAcylated proteins including EGF domain-specific O-GlcNAc transferase targets. Proc Natl Acad Sci USA 2012; 109: 7280-7285.