Refined gene localization for the Miles-Carpenter syndrome (MCS)

✍ Scribed by Tackels, Darci; Schwartz, Charles E.; Carpenter, Nancy J.; Miles, Judith H.

• Book ID: 101213932
• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 31 KB
• Volume: 85
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19990730)85:3<221::aid-ajmg7>3.0.co;2-w

✦ Synopsis

The gene for X-linked Miles-Carpenter syndrome (MCS) was initially localized to a broad region ranging from Xp11.4-q22.2 [Miles and Carpenter, 1991]. This entity consists of mental retardation, fingertip arches, and contractures. Female carriers exhibited the fingertip arches. Linkage, using the presence of fingertips with 8 to 10 low arches as the putative locus, was observed at DXYS1 with an lod score of 2.7 at zero recombination. The flanking loci were determined to be OTC in Xp11.4 and DXS94 in Xq22.2 [Miles and Carpenter, 1991]. We have restudied this family using numerous microsatellite markers in order to refine the localization and make it compatible with the newer genetic map of the X chromosome.

The new linkage data are presented in Tables I andII. A maximum lod score of 3.31 at ARA, DXS986, and DXS995 in Xq12-q21.1 was obtained when the presence of arches was used to indicate affected status (Table I). The closest flanking loci were found to be DXS1003 in Xp11.2 and DXS101 in Xq22 (Table I).