A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies
Φόρτωση...
Ημερομηνία
Συγγραφείς
Majava, M.
Hoornaert, K. P.
Bartholdi, D.
Bouma, M. C.
Bouman, K.
Carrera, M.
Devriendt, K.
Hurst, J.
Kitsos, G.
Niedrist, D.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer-reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Am J Med Genet A
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. Heterozygous COL11A1 mutations were found in 10 individuals. A splice site alteration (involving introns 47-55) was present in seven cases, with one in intron 50 (c.3816 + 1G > A) occurring in three patients. Two patients had a different deletion, and a missense mutation (Gly1471Asp) was observed in one case. In 4/10 patients the phenotype was classified as Marshall syndrome because of early-onset severe hearing loss and characteristic facial features. These four patients were all heterozygous for a splice site mutation in intron 50. One of these cases had a type 1 vitreous anomaly despite the presence of a COL11A1 mutation. The remaining 6/10 patients had an overlapping Marshall-Stickler phenotype with less pronounced facial features. None of these had a mutation in the hot spot region of intron 50.
Περιγραφή
Λέξεις-κλειδιά
Adolescent, Adult, Child, Child, Preschool, Collagen Type XI/*genetics, Female, Genetic Diseases, Inborn/*diagnosis, Genetic Testing, Heterozygote, Humans, Infant, Male, Mutation, Phenotype
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
http://www.ncbi.nlm.nih.gov/pubmed/17236192
http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.31586/asset/31586_ftp.pdf?v=1&t=h09p10bk&s=26dd454b644cabbdee9556254d3fbb69fa15eedc
http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.31586/asset/31586_ftp.pdf?v=1&t=h09p10bk&s=26dd454b644cabbdee9556254d3fbb69fa15eedc
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής