Occipital horn syndrome

Qi, M., Byers, P. H. (1998). Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the the Menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet. 7, 465-469. 

Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1998 1 85-98. 

Mutations in the Menkes gene in patients with Menkes disease show great variety, including missense, nonsense, deletion, and insertion mutations. Mutations in the Menkes gene have also been identified in patients with mild Menkes disease or occipital horn syndrome, showing that these diseases are allelic variants of Menkes disease. 

Occipital horn syndrome is a closely related disease to Menkes. In this condition, arterial tortuosity, elongation, and stenoses have been reported. Lysyl oxidase in skin and cultured cells is low. Serum copper is also low. 

Occipital Horn syndrome Connective tissue, bone fibroblasts (for diagnosis), intestine, nervous system Xql3.3 304150... 

For inborn errors of copper and iron metabolism these flow charts summarize the biochemical procedures for diagnosing Wilson s disease, Menkes disease, the occipital horn syndrome, hereditary hemochromatosis and aceruloplasminemia. However, biochemical diagnosis is only supplemental to the clinical findings, since these are quite unique for the different diseases. 

J Occipital horn syndrome Chorionic villi Cu concentration Cu uptake MI... 

Occipital horn syndrome FB Southern blot hybridis PCR ... 

Danks DM (1993) Disorder of copper transport Menkes disease and the occipital horn syndrome. In Connective Tissue and its Heritable Disorders. Molecular, Genetic and Medical Aspects (eds PM Royce and B Steinmann), Wiley-Liss, New York, pp 487-505. 

Kaler S, Gallo L, Proud V, Percy A, Mark Y, Segal N, Goldstein D, Holmes, Gahl W (1994) Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics 8, 195-202. 

Moller LB, Turner Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR and Horn N (2000) Similar splice-site mutations of the ATP7A gene lead to different phenotypes classical Menkes disease or occipital horn syndrome. Am J Hum Genet 66, 1211-1220. 

Tsukahara M, Imaizumi K, Kawai S, Kajii T (1994) Occipital horn syndrome Report of a patient and review of the literature. Clin Genet 45, 32-35. 

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