Lethal and non‐lethal diastrophic dysplasia A study of 14 Swedish cases

Gustavson, Karl‐Henrik; Holmgren, Gösta; Jagell, Sten; Jorulf, H

doi:10.1111/j.1399-0004.1985.tb00406.x

Cited by 15 publications

(1 citation statement)

References 17 publications

(14 reference statements)

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“…SLC26A2 is also related to diastrophic dysplasia (OMIM number 222600), which presents with relatively mild phenotypic chondrodystrophy, including short‐limb dwarfism identifiable at birth, talipes equinovarus, finger malformations, and cleft palate. The presence of structural SLC26A2 mutations on one or both alleles determines the severity of ACG1B and diastrophic dysplasia (Gustavson, Holmgren, Jagell, & Jorulf, ; Superti‐Furga, ).…”

Section: Introductionmentioning

confidence: 99%

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

Sato

Kojima

Samura

et al. 2019

American J of Med Genetics Pt A

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We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss‐of‐function point mutation causes substitution of glycine 663 with arginine in a highly conserved loop domain of SLC26A2. Interestingly, only a few cases of this mutation have been registered in Japanese genomic databases, and there are no reports of this mutation in any major genomic databases outside Japan. Furthermore, we confirmed the presence of a homozygous stretch of approximately 75 kb surrounding the pathogenic variant. Our findings suggest that this missense point mutation in SLC26A2, which is likely the cause of the ACG1B phenotypes in these unrelated fetuses, is distributed exclusively in Japan.

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Section: Introductionmentioning

confidence: 99%

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

Sato

Kojima

Samura

et al. 2019

American J of Med Genetics Pt A

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Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks

Gollop¹,

Eigier²,

Opitz³

et al. 1987

Am. J. Med. Genet.

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Abnormality of type IX collagen in a patient with diastrophic dysplasia

Diab

Shapiro

et al. 1994

Am. J. Med. Genet.

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There is growing evidence that a spectrum of chondrodysplasias are caused by mutations in the gene coding for type II collagen. The basic molecular defect in diastrophic dysplasia has not been defined, but it appears not to be in collagen type II. Cartilage contains other tissue-specific collagens, types IX, X, and XI, but no mutations have yet been found in their genes in clinical disease. Type IX collagen is hypothesized to play a role in the regulation of type II collagen fibril organization and structure in cartilage extracellular matrix. In this study, we have examined iliac crest growth cartilage from a patient with diastrophic dysplasia. Although collagen fibrils were markedly increased in diameter on transmission electron microscopy, type II collagen appeared to be normal biochemically. Type XI collagen was also normal. However, type IX collagen appeared abnormal on sodium dodecyl sulfate polyacrylamide gel electrophoresis with a pronounced excess of the COL1 domain of the molecule in pepsin extracts. The findings point to an abnormality in structure or metabolism of type IX collagen in diastrophic dysplasia.

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Lethal and non‐lethal diastrophic dysplasia A study of 14 Swedish cases

Cited by 15 publications

References 17 publications

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan‐specific pathogenic variant in SLC26A2

Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks

Abnormality of type IX collagen in a patient with diastrophic dysplasia

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