Open AccessLacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature
Author(s) -
Ryu Young Hye,
Kyun Chae Jong,
Kim JungWook,
Lee Soyoung
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1412
Subject(s) - aplasia , medicine , proband , hypoplasia , sanger sequencing , exome sequencing , missense mutation , xerophthalmia , hearing loss , microcephaly , dermatology , pathology , pediatrics , mutation , anatomy , genetics , audiology , biology , gene , vitamin a deficiency , retinol , vitamin
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 Molecular studies revealed a novel heterozygous missense mutation in exon 11 of FGFR2 : c.1547C>T (p.Ala516Val), compatible with LADD syndrome. Conclusion To the best of our knowledge, this is the first report of a family with LADD syndrome in Korea. The combination of xerostomia and xerophthalmia, seen in patients with LADD syndrome, may be misdiagnosed as Sjogren syndrome. WES may be a useful clinical tool in ascertaining the affected gene in patients with suspected genetic disorders. Here, a literature review and summary of 23 case reports/series of LADD syndrome are presented, which may help to identify patients with this condition.