E. Holinski-feder et al., Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region, AM J MED G, 86(2), 1999, pp. 102-106
Austrian family with nonsyndromic X-linked mental retardation (MRX) is repo
rted in which the obligatory carrier females are normal, and 5 affected mal
es have mild to moderate mental retardation. Linkage analysis indicated an
X pericentromeric localization, with flanking markers DXS989 and DXS1111 an
d a maximum multipoint LOD score of 2.09 (theta = 0) for the 7 cosegregatin
g markers DXS1243, CybB, MAOB, DXS988, ALAS2, DXS991, and AR. MRX58 thus ma
pped 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 retard
ation (XLMR) genes in this region. (C) 1999 Wiley-Liss, Inc.