Point mutations can cause autosomal-dominant hypoplastic AI, and novel ENAM mutations can cause autosomal-recessive hypoplastic AI. (wikipedia.org)
However, mutations in the ENAM gene mainly tend to lead to the autosomal-dominant AI. (wikipedia.org)
Xp22.2), a candidate gene for X-linked dominant hypoplastic AI (OMIM: 301200) [ 6 ], encoding an enamel matrix protein (EMPs) called amelogenin and making up to 90% of the ameloblast secreted EMPs [ 7 , 8 ]. (biomedcentral.com)
4q13.3), encoding the largest EMP called enamelin, a tooth specific protein expressed by ameloblasts, causing an autosomal recessive (OMIM: 204650) and dominant forms of AI (OMIM 104500) [ 9 , 10 ]. (biomedcentral.com)
Enamel7
It is one of the key proteins thought to be involved in amelogenesis (enamel development). (wikipedia.org)
Mutations in the ENAM gene can cause certain subtypes of amelogenesis imperfecta (AI), a heterogenous group of heritable conditions in which enamel in malformed. (wikipedia.org)
The phenotype of the mutations are generalised thin enamel and no defined enamel layer. (wikipedia.org)
Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all teeth , including both primary and permanent dentition . (bvsalud.org)
Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and composition. (biomedcentral.com)
4q13.3) encodes a glycine, leucine, and proline-rich enamel matrix protein called ameloblastin, a second most abundant protein expressed during amelogenesis. (biomedcentral.com)
230) cause junctional epidermolysis bullosa (JEB), a rare, genetically heterogeneous, mucocutaneous blistering disease with amelogenesis imperfecta (AI), a developmental enamel defect. (bmj.com)
Phenotype1
In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. (nih.gov)
Defect1
Further studies are necessary to clarify the genetic defect producing this syndrome , and the symptomatic associations of amelogenesis imperfecta , platyspondyly and bicytopenia. (bvsalud.org)
A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report. (bvsalud.org)
To the best of our knowledge , this is the first case report of a rare association of amelogenesis imperfecta , platyspondyly, and bicytopenia. (bvsalud.org)
10% dysplasia in affected cell lines, sometimes not possible though because of the Hypoplastic marrow reducing blood cells to be observed, genetic clones are usually not present more often than not with Hypoplastic Myelodysplastic Disorder associated with Dyskeratosis Congenita. (mdwiki.org)
Subtypes1
Witkop's classification distinguished 4 different types: hypoplastic, hypomature, hypomineralized and hypomature with taurodontism forms, with 14 specific subtypes [ 4 ]. (biomedcentral.com)
Severe2
Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. (nih.gov)
In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. (nih.gov)
Disease1
[4] [7] This results in the X-linked recessive form of the disease wherein the major protein affected is dyskerin. (mdwiki.org)
Manner1
JEB is inherited in an autosomal recessive manner. (nih.gov)
Large1
Amelogenesis imperfecta presents large variability in its clinical expression. (biomedcentral.com)