Amelogenesis Imperfecta, Type IV; AI4

What is Amelogenesis Imperfecta, Type IV; AI4?

Amelogenesis Imperfecta, Type IV; AI4 is a rare disease. It is also known as Amelogenesis Imperfecta, Hypomaturation-hypoplastic Type, With Taurodontism; Aihht.

This refers to the hypomaturation-hypoplasia type of amelogenesis associated with taurodontism. It presents with thin, hard enamel and enlarged pulp chambers. It can be confused with the tricho-dento-osseous syndrome (TDO), and indeed has now been found to be allelic with this condition (Dong et al., 2005). These authors found a 2 base-pair deletion at nucleotide 560 within the homeodomain of DLX3, whereas the mutations, to date, in TDO have been deletions in exon 3 outside the homeodomain. However, Price et al., (1999) reported a family with the dental findings of AI with taurodontism, with no evidence of haIr or bony abnormalities as seen in TDO, and with no mutation in DLX3
Hegde and Srikanth (2014) reported a case of amelogenesis imperfecta with taurodontism who had in addition abnormal dentin. There was no mutation analysis. There was a strong family history.

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* This information is courtesy of the L M D.

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What gene changes cause Amelogenesis Imperfecta, Type IV; AI4?

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

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.


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.

OMIM Number - 104510 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
DLX3 - 17q21.33

What are the main symptoms of Amelogenesis Imperfecta, Type IV; AI4?

The typical symptoms of the syndrome are:
Amelogenesis imperfecta, Autosomal dominant inheritance, Taurodontia

How does someone get tested for Amelogenesis Imperfecta, Type IV; AI4?

The initial testing for Amelogenesis Imperfecta, Type IV; AI4 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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