Amelogenesis Imperfecta - Gingival Hypertrophy

What is Amelogenesis Imperfecta - Gingival Hypertrophy?

Amelogenesis Imperfecta - Gingival Hypertrophy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

A large consanguineous family reported by Martelli-Junior et al., (2008) had members with abnormal dental enamel and other tooth abnormalities (pulpal calcification, unerupted teeth, retention of deciduous teeth, dental agenesis). All had gingival hyperplasia. The condition was mapped to 17q and mutations were found in FAM20A (O'Sullivan et al., 2011). Three further families with mutations were reported by Cho et al., (2012). The teeth were yellowish and the gums hypertrofied. Two patients with overlapping features of this syndrome and amelogenesis imperfecta - renal calcification/renal disease (see elsewhere) with FAM20A mutations, have suggested to the authors (Kantaputra et al., 2014) that they are the same condition. Note some patients might have the second mutation missed using WES and some might develop renal disease despite being negative for renal dysfunction in their teens (Poulter et al., 2015) - "enamel-renal-gingival"

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* This information is courtesy of the L M D.

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What gene changes cause Amelogenesis Imperfecta - Gingival Hypertrophy?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Amelogenesis Imperfecta - Gingival Hypertrophy?

The typical symptoms of the syndrome are:

How does someone get tested for Amelogenesis Imperfecta - Gingival Hypertrophy?

The initial testing for Amelogenesis Imperfecta - Gingival Hypertrophy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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