Timeline of Amelogenesis Imperfecta Management.

Amelogenesis imperfecta is a heterogeneous group of >100 different rare diseases. Affected individuals and families are facing diagnostic uncertainty and wandering and a therapeutic odyssey. Continuous multidisciplinary management from childhood to adulthood is essential, emphasizing the critical role of health care professionals.

Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.

Objective: Since Wnt signaling plays an important role in both tooth agenesis and altered intestine homeostasis, the aim was to compare gastrointestinal symptoms in patients with isolated oligodontia caused by a Wnt pathway gene mutation and controls.

Methods: A case-control study was designed to compare self-reported gastrointestinal symptoms among patients with isolated oligodontia, caused by a Wnt signaling gene mutation, and fully dentate controls. The Gastrointestinal Symptom Rating Scale (GSRS) was used to assess gastrointestinal symptoms.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).

The oral-facial-digital (OFD) syndromes comprise a group of related disorders with a combination of oral, facial and digital anomalies. Variants in several ciliary genes have been associated with subtypes of OFD syndrome, yet in most OFD patients the underlying cause remains unknown. We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotide polymorphism (SNP)-array analysis on the brothers and their healthy parents to identify homozygous regions and candidate genes.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and as a syndromal feature. We performed exome sequencing on 20 unrelated individuals with apparent non-syndromic oligodontia and failed to detect mutations in genes previously associated with oligodontia.

Patterns of missing teeth in a population of oligodontia patients.

Purpose: The purpose of this study was to characterize a population of oligodontia patients and identify patterns of tooth agenesis.

Materials And Methods: A total of 116 patients with nonsyndromic oligodontia were studied, and the Tooth Agenesis Code (TAC) per quadrant was calculated. Oligodontia was defined as the congenital absence of 6 or more permanent teeth, excluding the third molars.