Fig. 1
From: A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
Clinical information and pedigree. A The pedigree of the family, including the proband (IV-1, arrow). Grey squares and circles indicate males and females, respectively, with facial anomalies but no conductive hearing loss. Black squares and circles indicate males and females, respectively, with facial and ossicular chain anomalies. The TCOF1 c.4342 + 5_4342 + 8delGTGA mutational status of individuals available for genetic analysis is shown as WT/WT or WT/MT. B The proband and his cousin exhibited the typical facial phenotypes of Treacher Collins syndrome and their uncle with obvious but milder facial anomaly (III-4), i.e., overhanging lateral halves of the upper eyelids and downward slanting palpebral fissures. All individuals depicted herein gave written consent to the publication of the photographs. C Conductive hearing loss assessed via PTA of IV-1 and IV-4. Defects in air conduction were apparent; both ears had air-bone gaps. D Sanger sequencing of detected variants in family members revealed TCOF1: c.4342 + 5_4342 + 8delGTGA and POLR1C: c.525delG in family members. WT: wild type; MT: mutant; NA: not available