Abnormal Vertebral Segmentation and the Notch Signaling Pathway in Man.
From: Clinical Genetics, Royal Devon & Exeter Hospital, and Peninsula Medical School, Exeter, United Kingdom. peter.turnpenny@rdeft.nhs.uk
Developmental dynamics : an official publication of the American Association of Anatomists
- Publish Date: Jun 2007
- ISSN: 1058-8388
- Volume: 236
- Issue: 6
- Pages: 1456-74
- Medium: Print
- Language: English
- Citation (JAMA): Turnpenny Peter D, Alman Ben, Cornier Alberto S, et al. Abnormal Vertebral Segmentation and the Notch Signaling Pathway in Man.. Dev. Dyn. Jun 2007;236:1456-74
Abstract
Abnormal vertebral segmentation (AVS) in man is a relatively common congenital malformation but cannot be subjected to the scientific analysis that is applied in animal models. Nevertheless, some spectacular advances in the cell biology and molecular genetics of somitogenesis in animal models have proved to be directly relevant to human disease. Some advances in our understanding have come through DNA linkage analysis in families demonstrating a clustering of AVS cases, as well as adopting a candidate gene approach. Only rarely do AVS phenotypes follow clear Mendelian inheritance, but three genes-DLL3, MESP2, and LNFG-have now been identified for spondylocostal dysostosis (SCD). SCD is characterized by extensive hemivertebrae, trunkal shortening, and abnormally aligned ribs with points of fusion. In familial cases clearly following a Mendelian pattern, autosomal recessive inheritance is more common than autosomal dominant and the genes identified are functional within the Notch signaling pathway. Other genes within the pathway cause diverse phenotypes such as Alagille syndrome (AGS) and CADASIL, conditions that may have their origin in defective vasculogenesis. Here, we deal mainly with SCD and AGS, and present a new classification system for AVS phenotypes, for which, hitherto, the terminology has been inconsistent and confusing.
Mesh Headings (Keywords): Animals, Disease Susceptibility, Dysostoses, Humans, Phenotype, Receptors, Notch, Signal Transduction, Spine
Check for Full Text / PubMed Unique Identifier (PMID): 17497699
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