We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.
- Authors
Akbaroghli, Susan; Balali, Maryam; Kamalidehghan, Behnam; Saber, Siamak; Aryani, Omid; Goh Yong Meng; Houshmand, Massoud; Meng, Goh Yong
- Abstract
<bold>Background: </bold>Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on at least three chromosomal loci including 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3). The median age of diagnosis is 3 years; almost all affected individuals are diagnosed by age 12. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).<bold>Methods and Results: </bold>This study was performed on an Iranian family with nine affected individuals from three consecutive generations. Here, the proband was an affected woman who received genetic counseling prior to pregnancy. All exons of the three genes were examined in the proband using polymerase chain reaction and sequencing methods (the last member of this family is a male with severe deformities and lesions, especially around his large joints). Exon 4 of EXT1 (c.1235 G>A) was changed in affected individuals. This mutation alters tryptophan to a premature stop codon on amino acid position 412 (p.Trp412x).<bold>Conclusion: </bold>The outcome of this study has extended the genotypic spectrum of Iranian patients with HMO, revealing a way for improving detection and genetic counseling in carriers.
- Subjects
OSTEOCHONDROMA; EXOSTOSIS; GENETIC disorder diagnosis; DEGENERATION (Pathology); POLYMERASE chain reaction
- Publication
Therapeutics & Clinical Risk Management, 2017, Vol 13, p15
- ISSN
1176-6336
- Publication type
journal article
- DOI
10.2147/TCRM.S111717