Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.
An Austrian family with nonsyndromic X-linked mental retardation (MRX) is reported in which the obligatory carrier females are normal, and 5 affected males have mild to moderate mental retardation. Linkage analysis indicated an X pericentromeric localization, with flanking markers DXS989 and DXS1111 and a maximum multipoint LOD score of 2.09 (straight theta = 0) for the 7 cosegregating markers DXS1243, CybB, MAOB, DXS988, ALAS2, DXS991, and AR. MRX58 thus mapped within a 50-cM interval between Xp11.3 and Xq13.1 and overlapped with 23 other MRX families already described. This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region.
Holinski-Feder
E
E
Abteilung Medizinische Genetik der Kinderpoliklinik, München, Germany. elke@pedgen.med.uni-muenchen.de
Chahrockh-Zadeh
S
S
Rittinger
O
O
Jedele
K B
KB
Gasteiger
M
M
Lenski
C
C
Murken
J
J
Golla
A
A
D002503:Centromere / Q000235:genetics; D002874:Chromosome Mapping; D003582:Cytogenetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D014960:X Chromosome / Q000235:genetics*