| Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. | |
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MedLine Citation:
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PMID: 17638425 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Achondrogenesis type IA (Houston-Harris) is an extremely rare lethal chondrodysplasia with a characteristic severe disarrangement of endochondral ossification. The growth plate cartilage completely lacks columnar-zone formation and shows chondrocyte expansion due to intracellular vacuoles. This article on a new case of achondrogenesis type IA confirms these findings and demonstrates, on the ultrastructural level, the retention of fine fibrillar material within the rough endoplasmic reticulum (rER). Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. The only exception was type-X collagen, which was significantly reduced. Overall, our study suggests a disturbance in cartilage matrix assembly in the present case due to the retention of some sort of matrix component within the rER. Presumably, as a consequence of this event, processes of chondrocyte maturation and differentiation and endochondral bone formation are severely affected in this case of achondrogenesis type IA. |
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Authors:
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Thomas Aigner; Tilman Rau; Manuel Niederhagen; Frank Zaucke; Markus Schmitz; Uwe Pöhls; Helmut Stöss; Anita Rauch; Christian T Thiel |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: 10 ISSN: 1093-5266 ISO Abbreviation: Pediatr. Dev. Pathol. Publication Date: 2007 Jul-Aug |
Date Detail:
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Created Date: 2007-07-19 Completed Date: 2007-09-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 328-34 Citation Subset: IM |
Affiliation:
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Institute of Pathology, Liebigstrasse 26, Leipzig, Germany. thomas.aigner@medizin.uni-leipzig.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Eugenic Adult Anion Transport Proteins / genetics, metabolism Chondrocytes / metabolism, ultrastructure Collagen Type II / genetics, metabolism Collagen Type X / metabolism DNA Mutational Analysis Enchondromatosis / genetics, metabolism, pathology* Endoplasmic Reticulum, Rough / metabolism, ultrastructure Extracellular Matrix Proteins / genetics, metabolism Female Fluorescent Antibody Technique, Indirect Gestational Age Growth Plate / metabolism, pathology Humans Membrane Transport Proteins / genetics, metabolism Osteochondrodysplasias / genetics, metabolism, pathology* Phenotype Pregnancy |
| Chemical | |
Reg. No./Substance:
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0/Anion Transport Proteins; 0/COL2A1 protein, human; 0/Collagen Type II; 0/Collagen Type X; 0/Extracellular Matrix Proteins; 0/Membrane Transport Proteins; 0/SLC26A2 protein, human |
| Comments/Corrections | |
Comment In:
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Pediatr Dev Pathol. 2007 Jul-Aug;10(4):253-5
[PMID:
17638434
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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