EEM syndrome is caused by mutations in the P-cadheringene (CDH3).[5] Distinct mutations in CDH3 (located on human chromosome16) are responsible for the macular dystrophy and spectrum of malformations found in EEM syndrome,[5] due in part to developmental errors caused by the resulting inability of CDH3 to respond correctly to the P-cadherintranscription factorp63.[6]
The gene for p63 (TP73L, found on human chromosome 3) may also play a role in EEM syndrome.[6] Mutations in this gene are associated with the symptoms of EEM and similar disorders, particularly ectrodactyly.[7]
EEM syndrome is an autosomal recessive disorder,[2] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed]
^ abcHayakawa M, Yanashima K, Kato K, Nakajima A, Yamauchi H (1989). "Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report)". Ophthalmol Paediatr Genet. 10 (4): 287–292. doi:10.3109/13816818909009884. PMID2628819.
^ abcdYildirim MS, Ogun TC, Kamis U (2006). "Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution". Genet Couns. 17 (2): 149–153. PMID16970031.
^ abcdSenecky Y, Halpern GJ, Inbar D, Attias J, Shohat M (2001). "Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings". Am J Med Genet. 101 (3): 195–197. doi:10.1002/ajmg.1361. PMID11424132.
^Balarin Silva V, Simones AM, Marques-de-Faria AP (1999). "EEM syndrome: report of a family and results of a ten-year follow-up". Am J Med Genet. 20 (2): 95–99. doi:10.1076/opge.20.2.95.2290. PMID10420194.
^Zenteno JC, Berdon-Zapata V, Kofman-Alfaro S, Mutchinick O (2005). "Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of Tp63". Am J Med Genet A. 134 (1): 74–76. doi:10.1002/ajmg.a.30277. PMID15736220. S2CID38402286.