Saenz Hinojosa Samantha, Reyes-Silva Carlos, Hosomichi Kazuyoshi, Romero Vanessa I
Human Genetics Department, School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Genetics Department, Hospital de Especialidades Eugenio Espejo, Quito, Ecuador.
Front Genet. 2025 Jan 7;15:1354632. doi: 10.3389/fgene.2024.1354632. eCollection 2024.
Delays in diagnosing rare genetic disorders often arise due to limited awareness and systemic challenges in primary care. This case highlights the importance of a holistic approach to patient care, encompassing timely detection and comprehensive evaluation of clinical features.
We report the case of a 21-year-old Ecuadorian male with facial and hand dysmorphias, cardiomegaly, pulmonary hypertension, and patent ductus arteriosus (PDA). Whole-exome sequencing, performed using the Illumina NextSeq platform. We extensively analyzed over 100 genes linked to congenital structural heart diseases.
The genetic findings provided a definitive diagnosis of Craniofacial-Deafness-Hand Syndrome, an extremely rare autosomal dominant condition, but found no variants that explain the patient's cardiac phenotype. We identified a novel pathogenic missense variant in the gene (c.A91C, p. T31P).
This case underscores the necessity of integrating genetic testing into routine clinical practice to enhance diagnostic precision for rare diseases. It also highlights the need for multidisciplinary collaboration and a holistic care model to improve patient outcomes. The unique association of Craniofacial-Deafness-Hand Syndrome with cardiovascular anomalies due to a variation provides valuable insights into the genetic underpinnings of this rare condition.
由于基层医疗中认识有限和系统性挑战，罕见遗传病的诊断往往会出现延迟。本病例强调了全面的患者护理方法的重要性，包括及时检测和对临床特征进行全面评估。
我们报告了一名21岁厄瓜多尔男性病例，该患者有面部和手部畸形、心脏肥大、肺动脉高压和动脉导管未闭（PDA）。使用Illumina NextSeq平台进行全外显子组测序。我们广泛分析了100多个与先天性结构性心脏病相关的基因。
基因检测结果明确诊断为颅面-耳聋-手综合征，这是一种极其罕见的常染色体显性疾病，但未发现可解释患者心脏表型的变异。我们在该基因中发现了一个新的致病性错义变异（c.A91C，p.T31P）。
本病例强调了将基因检测纳入常规临床实践以提高罕见病诊断准确性的必要性。它还突出了多学科协作和全面护理模式对改善患者预后的需求。颅面-耳聋-手综合征与因一种变异导致的心血管异常之间的独特关联，为这种罕见疾病的遗传基础提供了有价值的见解。
