AMME-oireyhtymä
Alportin oireyhtymä, kehitysvammaisuus, keskikasvojen vajaakasvuisuus ja elliptosytoosiATS-MR
Amerikkalaisen
OMIM-tietokannan artikkelin (2003) mukaan oireyhtymää on
pidetty useamman geenin deleetiona X-kromosomin alueella Xq22.3. Sen
oireita ovat munuaissairautena tunnettu
Alportin oireyhtymä,
kehitysvammaisuus, keskikasvojen vajaakasvuisuus ja elliptosytoosi (punaisten verisolujen elliptisyys, engl.
elliptocytosis).
Amerikkalaiset J. J.
Jonsson, A.
Renieri ja P. G.
Gallagher kumppaneineen kuvasivat perin harvinaisen oireiston. v. 1998.
Lisätietoja:
AMME COMPLEX, OMIM, Victor A. McKusick, Ada Hamosh
GeneCard for AMMECR1
Alport syndrome (AS, ATS), Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes, Stanley Jablonski 1999,
NLM, USA
X-linked
recessive nephritis with mental retardation, sensorineural hearing
loss, and macrocephaly, Lane W, Robson M, Lowry RB, Leung AK, Clin
Genet. 1994 Jun;45(6):314-7, PubMedAlport
syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a
new X linked contiguous gene deletion syndrome? Jonsson JJ, Renieri A,
Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli
F, Ballabio A, Pober BR, J Med Genet. 1998 Apr;35(4):273-8, PubMed
FACL4,
a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a
family with Alport syndrome, elliptocytosis, and mental retardation,
Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M,
Zollo M, Borsani G, Ballabio A, Renieri A, Genomics. 1998 Feb
1;47(3):350-8, PubMedIdentification
and characterization of a highly conserved protein absent in the Alport
syndrome (A), mental retardation (M), midface hypoplasia (M), and
elliptocytosis (E) contiguous gene deletion syndrome (AMME), Vitelli F,
Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J,
Sorrentino V, Renieri A, Genomics. 1999 Feb 1;55(3):335-40 PubMed
Alport
syndrome and mental retardation: clinical and genetic dissection of the
contiguous gene deletion syndrome in Xq22.3 (ATS-MR), Meloni I, Vitelli
F, Pucci L, Lowry RB, Tonlorenzi R, Rossi E, Ventura M, Rizzoni G,
Kashtan CE, Pober B, Renieri A, Journal of Medical Genetics
2002;39:359-365FACL4,
encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked
mental retardation, Meloni I, Muscettola M, Raynaud M, Longo I,
Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP,
Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE,
Renieri A, Nat Genet. 2002 Apr;30(4):436-40, PubMed
X-kromosomin kehitysvammat
Kari Viitapohja 14.2.2006
