BOR1 syndrome is an autosomal dominant disorder that variably involves developmental defects of ear, brachial arches, and kidney. The disease is caused by mutations in the gene EYA1.
The clinical presentation is similarily variable in all forms of branchiootorenal dysplasia, and it is describe in the superordinate concept.
|Branchiootorenal dysplasia 1|
|Branchiootorenal dysplasia 2|
|Townes-Brocks branchiootorenal-like syndrome|
Van Schaftingen E et al. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
Matthijs G et al. (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
Bjursell C et al. () Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.
Matthijs G et al. (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).
Böhles H et al. (2001) Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).
Briones P et al. (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Neumann LM et al. (2003) Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
Auwerx JH et al. (1989) Defective enzyme protein in lipoprotein lipase deficiency.
None (1989) Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases.
NCBI articleNCBI 1545
OMIM.ORG articleOmim 601771