Amelogenesis Imperfecta, Type 1A

Alternative Names

  • AI1A
  • Amelogenesis imperfecta, hypoplastic type IA
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

OMIM Number

104530

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1q32.2

Description

Amelogenesis imperfecta (AI) is a rare disorder characterised by abnormal development of the enamel. In patients with AI, normal thickness of the enamel is affected, resulting in discoloured, pitted or grooved teeth that are brittle. Patients suffering from AI are also prone to early tooth loss and/or diseases affecting the periodontal tissues.

AI is classified into four types based on the nature of the enamel defect and its appearance on X-ray images. The four major types are: hypoplastic (Type I), hypomaturation (Type II), hypocalcified (Type III), and hypomaturation/hypocalcified/taurodontism (Type IV). These main four types are further classified into 18 subtypes based on their inheritance pattern. Amelogenesis imperfecta type IA (AI1A) follows autosomal dominant pattern of inheritance and is associated with heterozygous mutation in the LAMB3 gene.

Epidemiology in the Arab World

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Other Reports

Jordan

Nusier et al. (2004) undertook a study to evaluate multiple families with autosomal recessive amelogenesis imperfecta (ARAI). Nine Jordanian families consisting of 20 affected and 41 unaffected children were studied. The recessive nature of the disease was highlighted by the ratio of unaffected to affected siblings (4:1) as well as by the lack of symptoms in any of the parents, and consanguinity in three of the families. Hypoplastic AI was diagnosed in five families, while hypocalcified and hypomaturation AI was diagnosed in two. Nusier et al. (2004) proposed a revised classification for all ARAI giving importance to the mode of inheritance, as well as the clinical presentation.

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