Department of Clinical Genetics, Birmingham Women's and Children's Hospital, UK.
Department of Clinical Genetics, Birmingham Women's and Children's Hospital, UK.
Eur J Med Genet. 2022 Jul;65(7):104523. doi: 10.1016/j.ejmg.2022.104523. Epub 2022 May 17.
Otofaciocervical syndrome (OTFCS) is a rare condition associated with short stature, abnormal facial features and conductive hearing loss. OTFCS type 2 (OTFCS) is an autosomal recessive form of this condition with associated T cell deficiency due to biallelic variants in PAX1. We report a female child born to a consanguineous couple with homozygous PAX1 variant. She was diagnosed with T cell immunodeficiency as a neonate and underwent haematopoietic stem cell transplant with cord blood at the age of 5 months. She had facial dysmorphism including ear abnormalities and spinal deformity. We present longitudinal follow-up of the proband who has responded well to the bone marrow transplant to add to the otherwise limited description of this rare condition. This case report expands on the limited literature available on this condition, with only five families reported to date and it further highlights the clinical utility of a rapid gene-agnostic trio exome analysis in identifying a genetic diagnosis in patients who previously underwent genomic testing by gene panel analysis.
面肩肱型肌营养不良症（OTFCS）是一种罕见的疾病，与身材矮小、面部特征异常和传导性听力损失有关。OTFCS 型 2（OTFCS）是一种常染色体隐性遗传形式，由于 PAX1 的双等位基因变异导致 T 细胞缺陷。我们报告了一例由近亲结婚夫妇所生的女性患儿，其携带 PAX1 纯合变体。她在新生儿期被诊断为 T 细胞免疫缺陷，并在 5 个月大时接受了脐带血造血干细胞移植。她存在面部畸形，包括耳部异常和脊柱畸形。我们对该先证者进行了纵向随访，其对骨髓移植反应良好，这为这种罕见疾病的有限描述提供了补充。该病例报告扩展了目前对此种疾病的有限文献描述，迄今为止仅报告了五例，并且进一步强调了在以前通过基因panel 分析进行基因组检测的患者中，快速基于基因的 trio 外显子组分析在确定遗传诊断方面的临床应用价值。
