A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33
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Ημερομηνία
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Περιοδικό ISSN
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Εκδότης
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Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Am J Med Genet A
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Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
Nonsyndromic X-linked mental retardation (MRX) is a highly heterogeneous condition in which mental retardation appears to be the only consistent manifestation. According to the most recent data, 77 MRX families with a lod score of >2 have been mapped and eight genes have been cloned. We hereby report on a linkage analysis performed on a Greek family with apparently nonsyndromic MRX. The affected males have moderate to severe mental retardation, severe speech problems, and aggressive behavior. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 27 Mb interval in Xq12-Xq21.33. The maximum LOD score was found for markers DXS1225, DXS8114, and DXS990 at 2.36, 2.06, 2.06, respectively at theta = 0.00. Recombination was observed for DXS983 at the proximal side and DXS6799 at the distal side. Nineteen other MRX families have been described with a partial overlapping disease gene interval in proximal Xq. No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR-X. These data indicate that the Xq12-Xq21.33 interval contains at least one additional MRX gene.
Περιγραφή
Λέξεις-κλειδιά
Chromosome Mapping, *Chromosomes, Human, X, Cytogenetic Analysis, DNA Mutational Analysis, Female, Humans, Male, Mental Retardation, X-Linked/*genetics/physiopathology, Pedigree
Θεματική κατηγορία
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Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/12949971
http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.20284/asset/20284_ftp.pdf?v=1&t=h0bwvaxu&s=3f9ba6d47217cf5ab084269e2d303c2a6eb496dc
http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.20284/asset/20284_ftp.pdf?v=1&t=h0bwvaxu&s=3f9ba6d47217cf5ab084269e2d303c2a6eb496dc
Γλώσσα
en
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Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής