Congenital disorders

Deficiency of Factor VII is relatively rare and inherited as an autosomal recessive disorder. Deficiency of Factor VII has been reported to be associated with bond abnormal bleeding and thrombotic tendencies. Deep vein thrombosis and pulmonary emboli have been reported in affected individuals. There is a very high frequency of Factor VII deficiency in people with the Dubin-Johnson syndrome, which is a congenital disorder of Hver function. 

Abnormalities of the glycosylation of transferrin occur in the congenital disorders of glycosylation (Chapter 47) and in chronic alcohol abuse. Their detection by, for example, isoelectric focusing is used to help diagnose these conditions. 

Fetal alcohol syndrome A congenital disorder arising from excessive (>50g per day) alcohol intake during pregnancy. 

Jick H, Hohnes LB, Hunter JR, et al. First trimester drug use and congenital disorders. JAMA 1981 246 343-6. 

In addition to germline Fas mutations in the human congenital disorders ALPS and CSS corresponding to the phenotypes of Ipr and Ipr" experimental mice. 

Table 4.5.1 Summary of known molecular defects in OMIM Online Mendelian Inheritanc in Man congenital disorders of glycosylat ion (CDGj. 

Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel DR, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH (2007) COG8 deficiency causes new congenital disorder of glycosylation type Ilh. Hum Mol Genet 16 731-741... 

Liibke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C (2001) Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 28 73-76... 

Mills K, Mills PB, Clayton PT, Mian N, Johnson AW, Winchester BG (2003) The underglyco-sylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. Glycobiology 13 73-85... 

Wada Y (2006) Mass spectrometry for congenital disorder of glycosylation, CDG. J Chro-matogr Analyt Technol Biomed Life Sci 838 3-8... 

Wu X, Steet RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10 518-523... 

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