Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

Hästbacka, Johanna; Kaitila, Ilkka; Sistonen, P; Chapelle, Albert de la

doi:10.1073/pnas.87.20.8056

Cited by 53 publications

(14 citation statements)

References 22 publications

(19 reference statements)

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“…In addition, enriched diseases are frequently caused by one ancient mutation, which makes the assignment of disease loci easier, as in the efficient application of linkage disequilibrium in mapping strategies. Indeed, the Finnish population has been successfully used in the mapping of the genes for several severe inherited diseases (21)(22)(23)(24).…”

Section: Discussionmentioning

confidence: 99%

Infantile Onset Spinocerebellar Ataxia Represents an Allelic Disease Distinct from Other Hereditary Ataxias

et al. 1994

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Section: Discussionmentioning

confidence: 99%

Infantile Onset Spinocerebellar Ataxia Represents an Allelic Disease Distinct from Other Hereditary Ataxias

et al. 1994

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“…Mapping by linkage in multiplex families allowed a resolution of 5 cM on chromosome 5 (70). When uniplex families were genotyped, in addition it became clear that one marker, and in particular one extended haplotype of markers, was almost uniquely associated with DTD-carrying chromosomes (33).…”

Section: Diastrophic Dysplasia (Dtd)mentioning

confidence: 99%

Linkage disequilibrium mapping in isolated populations: The example of Finland revisited

Chapelle

Wright²

1998

Proc. Natl. Acad. Sci. U.S.A.

201

105

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Linkage disequilibrium analysis can provide high resolution in the mapping of disease genes because it incorporates information on recombinations that have occurred during the entire period from the mutational event to the present. A circumstance particularly favorable for high-resolution mapping is when a single founding mutation segregates in an isolated population. We review here the population structure of Finland in which a small founder population some 100 generations ago has expanded into 5.1 million people today. Among the 30-odd autosomal recessive disorders that are more prevalent in Finland than elsewhere, several appear to have segregated for this entire period in the ''panmictic'' southern Finnish population. Linkage disequilibrium analysis has allowed precise mapping and determination of genetic distances at the 0.1-cM level in several of these disorders. Estimates of genetic distance have proven accurate, but previous calculations of the confidence intervals were too small because sampling variation was ignored. In the north and east of Finland the population can be viewed as having been ''founded'' only after 1500. Disease mutations that have undergone such a founding bottleneck only 20 or so generations ago exhibit linkage disequilibrium and haplotype sharing over long genetic distances (5-15 cM). These features have been successfully exploited in the mapping and cloning of many genes. We review the statistical issues of fine mapping by linkage disequilibrium and suggest that improved methodologies may be necessary to map diseases of complex etiology that may have arisen from multiple founding mutations.

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“…In 1990, there were 160 Finn patients with a confirmed diagnosis of skeletal dysplasia, while there were fewer than 300 patients in the rest of the world. [3][4][5] During the formation of the skeletal system, most of the bones originate from the cartilage, in a process called endochondral ossification. This process allows elongation and thickening of the bones as the fetus grows, and it continues throughout childhood until bone growth ceases.…”

Section: Introductionmentioning

confidence: 99%

Diastrophic dysplasia: prenatal diagnosis and review of the literature

Honório

Bruns

Gründtner³

et al. 2013

Sao Paulo Med. J.

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CONTEXT: Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT: The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16 th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions) and mesomelia (shortening of the intermediate portions). Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR) and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS: Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature. RESUMOCONTEXTO: A displasia diastrófica é uma osteocondrodisplasia causada por mutação homozigótica no gene DTDST (diastrophic dysplasia sulfate transporter gene). As alterações, principalmente nos sistemas esquelético e cartilaginoso, são típicas dessa doença, que tem uma incidência de 1 em 100.000 nascidos vivos. RELATO DO CASO: Descreve-se o caso de uma mulher gestante, sem relação consanguínea com o seu marido, cujo feto foi diagnosticado com displasia esquelética baseado na ultrassonografia e em testes de DNA. A ultrassonografia obstétrica, realizada na 16 a semana, revelou características que guiaram o diagnóstico clínico. Entre elas, se destacam os membros inferiores e superiores com rizomelia (encurtamento das porções proximais) e mesomelia (encurtamento das porções intermediárias), ambos os membros superiores mostraram acentuada flexão, o primeiro dedo em abdução nas extremidades superiores e clinodactilia do quinto dedo. A análise molecular pela reação em cadeia da polimerase (PCR) e o sequenciamento gênico detectou mutações já descritas na literatura para o gene DTDST, chamado c.862C > T e c.2147_2148insCT. Portanto, o feto é um heterozigoto composto, carreando duas mutações diferentes. CONCLUSÕES: O diagnóstico pré-natal dessa condição permite uma interpretação mais realista do prognóstico e do futuro reprodutivo do casal. Este relato de caso mostra a contribuição da genética molecular no diagnóstico pré-natal, com poucas descrições na literatura.

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Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

Cited by 53 publications

References 22 publications

Infantile Onset Spinocerebellar Ataxia Represents an Allelic Disease Distinct from Other Hereditary Ataxias

Infantile Onset Spinocerebellar Ataxia Represents an Allelic Disease Distinct from Other Hereditary Ataxias

Linkage disequilibrium mapping in isolated populations: The example of Finland revisited

Diastrophic dysplasia: prenatal diagnosis and review of the literature

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