Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
نویسندگان
چکیده
منابع مشابه
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are essential for skeletal morphogenesis. We report here that an autosomal dominant form of Stickler syndrome, characterized by mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, but no eye involvement, is caused by a splice donor site muta...
متن کاملMutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
BACKGROUND Allele variants of COL11A2, encoding collagen type XI alpha2, cause autosomal dominant non-syndromic hearing loss (ARNSHL) at the DFNA13 locus (MIM 601868) and various syndromes that include a deafness phenotype. OBJECTIVE To describe a genome-wide scan carried out on a consanguineous Iranian family segregating ARNSHL. RESULTS Genotyping data identified a novel locus for ARNSHL o...
متن کاملCharacterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus.
The mouse brown locus encodes a putative membrane-bound metalloenzyme, tyrosinase-related protein-1 (TRP-1). We have examined the effect on mRNA expression of the locus of a number of mutant alleles. The common null mutant allele, brown, produces wild-type levels of TRP-1 mRNA, which is nonfunctional. Another recessive allele, cordovan-Harwell, has an intermediate, dark-brown phenotype and prod...
متن کاملDevelopmental arrest and ecdysteroid deficiency resulting from mutations at the dre4 locus of Drosophila.
Loss-of-function mutations of the dre4 gene of Drosophila melanogaster caused stage-specific developmental arrest, the stages of arrest coinciding with periods of ecdysteroid (molting hormone) regulated development. Nonconditional mutations resulted in the arrest of larval development in the first instar; embryogenesis was not impaired, and mutant larvae were behaviorally normal and long-lived....
متن کاملThe dominant and recessive forms of cutis laxa.
Cutis laxa is a very rare, genetically determined disorder of elastin, characterized clinically by a tendency of the skin to hang in loose folds, with the production of a typical grotesque facies and the appearance of premature ageing. These changes may be present at birth or may develop during infancy. Systemic ramifications may be widespread and, in particular, the pulmonary and cardiovascula...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2012
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34406