A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome

• Published in: Chinese medical journal Vol. 135; no. 19; pp. 2375 - 2377
• Main Authors: Zhao, Xin, Lan, Yan, Miao, Jinfeng, Li, Guo, Sun, Wenzhe, Qiu, Xiuli, Zhu, Suiqiang, Zhu, Zhou
• Format: Journal Article
• Language: English
• Published: China Lippincott Williams & Wilkins 05-10-2022; Lippincott Williams & Wilkins Ovid Technologies; Wolters Kluwer
• Subjects: Atrophy; Correspondence; Disease; Genomes; Humans; Hyperthyroidism; Hypokalemia; Intellectual disabilities; Microcephaly; Middle age; Middle Aged; Mutation; Nervous system; Obesity; Polymerase chain reaction; Proteins; Scoliosis; Siblings; TATA-Binding Protein Associated Factors - genetics; Thyroid cancer
• DOI: 10.1097/CM9.0000000000001901
• EISSN: 2542-5641
• ISSN: 0366-6999

[1–4] The age of the reported patients ranges from infancy to early adulthood. Since the rarity of CFDS, more study is required for evaluating its natural history and clinical characteristics. Hematological results showed that she had severe hyperhomocysteinemia (>50 μmol/L), hypokalemia (2.72 mmol/L, normal range: 3.5–5.1 mmol/L), and hyperthyroidism (FT3: 11.00 pmol/L, FT4: 55.20 pmol/L, thyroid-stimulating hormone: 0.01 μIU/mL). Since she had irremovable metal dentures, computed tomography of the brain was performed instead of magnetic resonance imaging, which showed that brain atrophy, especially cerebellar vermis atrophy, bilateral periventricular leukomalacia, ventricular enlargement, and multiple scattered low-density lacunes [Figure 1]. Besides these typical features, we observed some previously undescribed but common features in our patients, including distal limbs muscle atrophy, relatively truncal obesity, long slender fingers, finger joint contractures, early tooth loss, and pes planus. [...]our study identified a novel homozygous variant of BRF1 gene in two middle-aged CFDS siblings.