Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.

ABSTRACT:

Background

Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features.

Case presentation

We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent

SUBMITTER: Guven Y 

PROVIDER: S-EPMC10204325 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature