Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia
نویسندگان
چکیده
منابع مشابه
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic protein 6 gene (BMP6) as a candidate for the disease by cytogenetic localization and genetic recombination. CCD was linked with a maximal two-point ...
متن کاملCbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their skeletons revealed an absence of osteoblasts and bone. Heterozygous mice showed specific skeletal abnormalities that are characteristic of the human heritable skeletal disorder, cleidocranial dysplasia (CCD). These defects are also observed in a mouse Ccd mutant for this ...
متن کاملIdentification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 ...
متن کاملCleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births. In this report, we present a case of 10-years-old boy showing features of this condition.
متن کامل[Cleidocranial dysplasia: a case report].
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1997
ISSN: 0148-7299,1096-8628
DOI: 10.1002/(sici)1096-8628(19970822)71:3<292::aid-ajmg9>3.0.co;2-w