A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27
Identifieur interne : 009046 ( Main/Curation ); précédent : 009045; suivant : 009047A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27
Auteurs : Vandana Shashi [États-Unis] ; Margaret N. Berry [États-Unis] ; Sarah Shoaf [États-Unis] ; James J. Sciote [États-Unis] ; Donald Goldstein [États-Unis] ; Thomas C. Hart [États-Unis]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 2000.
English descriptors
- KwdEn :
- Bfls, Bulbous nose, Candidate interval, Carolina family, Carrier females, Cephalometric, Cephalometric analysis, Cephalometric measurements, Chromosome, Chromosome X, Chromosome Xq26-q27, Clinical features, Clinical manifestations, Coarse facies, Composite picture, Cowchock syndrome, Craniofacial abnormalities, Differential diagnoses, Differential diagnosis, Distinctive craniofacial, Gedeon, Gene locus, Gene, mapping, Genet, Genetic basis, Genetic counseling, Genetic interval, Gustavson syndrome, Haplotype analysis, Large ears, Large testes, Large testicles, Lehmann syndrome, Linkage, Linkage analysis, Localization, Locus, Mapping studies, Mental retardation, Mental retardation syndrome, Mental retardation, X-linked, Mutation, Narrow palpebral, Other xlmr conditions, Peripheral blood, Phenotype, Present study, Prominent supraorbital ridges, Puffy eyelids, Recessive, Recessive inheritance, Recessive mode, Retardation, Retardation syndrome, Retarded males, Short stature, Strp loci, Syndrome, Syndromic, Syndromic xlmr, Unaffected, Unaffected males, Unique xlmr syndrome, Vertical mandibular angle, Wake forest university school, Xlmr, Xlmr conditions, Xlmr syndromes.
- Teeft :
- Bfls, Bulbous nose, Candidate interval, Carolina family, Carrier females, Cephalometric, Cephalometric measurements, Chromosome, Clinical features, Clinical manifestations, Coarse facies, Composite picture, Cowchock syndrome, Differential diagnoses, Differential diagnosis, Distinctive craniofacial, Gedeon, Gene locus, Genet, Genetic basis, Genetic counseling, Genetic interval, Gustavson syndrome, Haplotype analysis, Large ears, Large testes, Large testicles, Lehmann syndrome, Linkage, Linkage analysis, Localization, Locus, Mapping studies, Mental retardation, Mental retardation syndrome, Mutation, Narrow palpebral, Other xlmr conditions, Peripheral blood, Phenotype, Present study, Prominent supraorbital ridges, Puffy eyelids, Recessive, Recessive inheritance, Recessive mode, Retardation, Retardation syndrome, Retarded males, Short stature, Strp loci, Syndrome, Syndromic, Syndromic xlmr, Unaffected, Unaffected males, Unique xlmr syndrome, Vertical mandibular angle, Wake forest university school, Xlmr, Xlmr conditions, Xlmr syndromes.
Abstract
SummaryWe report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.
Url:
- https://api.istex.fr/document/79E2C8EB0CA9380A9DF7AEE4287E5AD170C544DB/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288100
DOI: 10.1086/302772
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<front><div type="abstract">SummaryWe report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.</div>
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<term>Carrier females</term>
<term>Cephalometric</term>
<term>Cephalometric analysis</term>
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<term>Chromosome X</term>
<term>Chromosome Xq26-q27</term>
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<term>Clinical manifestations</term>
<term>Coarse facies</term>
<term>Composite picture</term>
<term>Cowchock syndrome</term>
<term>Craniofacial abnormalities</term>
<term>Differential diagnoses</term>
<term>Differential diagnosis</term>
<term>Distinctive craniofacial</term>
<term>Gedeon</term>
<term>Gene locus</term>
<term>Gene, mapping</term>
<term>Genet</term>
<term>Genetic basis</term>
<term>Genetic counseling</term>
<term>Genetic interval</term>
<term>Gustavson syndrome</term>
<term>Haplotype analysis</term>
<term>Large ears</term>
<term>Large testes</term>
<term>Large testicles</term>
<term>Lehmann syndrome</term>
<term>Linkage</term>
<term>Linkage analysis</term>
<term>Localization</term>
<term>Locus</term>
<term>Mapping studies</term>
<term>Mental retardation</term>
<term>Mental retardation syndrome</term>
<term>Mental retardation, X-linked</term>
<term>Mutation</term>
<term>Narrow palpebral</term>
<term>Other xlmr conditions</term>
<term>Peripheral blood</term>
<term>Phenotype</term>
<term>Present study</term>
<term>Prominent supraorbital ridges</term>
<term>Puffy eyelids</term>
<term>Recessive</term>
<term>Recessive inheritance</term>
<term>Recessive mode</term>
<term>Retardation</term>
<term>Retardation syndrome</term>
<term>Retarded males</term>
<term>Short stature</term>
<term>Strp loci</term>
<term>Syndrome</term>
<term>Syndromic</term>
<term>Syndromic xlmr</term>
<term>Unaffected</term>
<term>Unaffected males</term>
<term>Unique xlmr syndrome</term>
<term>Vertical mandibular angle</term>
<term>Wake forest university school</term>
<term>Xlmr</term>
<term>Xlmr conditions</term>
<term>Xlmr syndromes</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Bfls</term>
<term>Bulbous nose</term>
<term>Candidate interval</term>
<term>Carolina family</term>
<term>Carrier females</term>
<term>Cephalometric</term>
<term>Cephalometric measurements</term>
<term>Chromosome</term>
<term>Clinical features</term>
<term>Clinical manifestations</term>
<term>Coarse facies</term>
<term>Composite picture</term>
<term>Cowchock syndrome</term>
<term>Differential diagnoses</term>
<term>Differential diagnosis</term>
<term>Distinctive craniofacial</term>
<term>Gedeon</term>
<term>Gene locus</term>
<term>Genet</term>
<term>Genetic basis</term>
<term>Genetic counseling</term>
<term>Genetic interval</term>
<term>Gustavson syndrome</term>
<term>Haplotype analysis</term>
<term>Large ears</term>
<term>Large testes</term>
<term>Large testicles</term>
<term>Lehmann syndrome</term>
<term>Linkage</term>
<term>Linkage analysis</term>
<term>Localization</term>
<term>Locus</term>
<term>Mapping studies</term>
<term>Mental retardation</term>
<term>Mental retardation syndrome</term>
<term>Mutation</term>
<term>Narrow palpebral</term>
<term>Other xlmr conditions</term>
<term>Peripheral blood</term>
<term>Phenotype</term>
<term>Present study</term>
<term>Prominent supraorbital ridges</term>
<term>Puffy eyelids</term>
<term>Recessive</term>
<term>Recessive inheritance</term>
<term>Recessive mode</term>
<term>Retardation</term>
<term>Retardation syndrome</term>
<term>Retarded males</term>
<term>Short stature</term>
<term>Strp loci</term>
<term>Syndrome</term>
<term>Syndromic</term>
<term>Syndromic xlmr</term>
<term>Unaffected</term>
<term>Unaffected males</term>
<term>Unique xlmr syndrome</term>
<term>Vertical mandibular angle</term>
<term>Wake forest university school</term>
<term>Xlmr</term>
<term>Xlmr conditions</term>
<term>Xlmr syndromes</term>
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<front><div type="abstract">SummaryWe report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.</div>
</front>
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<PMC><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27</title>
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<author><name sortKey="Shoaf, Sarah" sort="Shoaf, Sarah" uniqKey="Shoaf S" first="Sarah" last="Shoaf">Sarah Shoaf</name>
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<front><div type="abstract" xml:lang="en"><title>Summary</title>
<p>We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.</p>
</div>
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