Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.

ABSTRACT:

Background

Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2), FGFR3, or FGF10. Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.

Case presentation

Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low-set/cupped ear auricles, and hearing loss in the left ear.

Methods

Whole exome sequencing (WES) was performed on proband. Variations and segregation within the family were verified using Sanger sequencing.

Results

SUBMITTER: Ryu YH 

PROVIDER: S-EPMC7549548 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature