Güneş Sebla, Wu Jiangping, Özyılmaz Berk, Deveci Sevim Reyhan, Ünüvar Tolga, Anık Ahmet
Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Aydın Adnan Menderes University, 09100 Aydın, Turkey.
Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, QU H2X 0A9, Canada.
Pharmaceuticals (Basel). 2022 Dec 10;15(12):1535. doi: 10.3390/ph15121535.
Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 () gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip, dry and curly hair, and longitudinal splitting of nails. A 9-year-and-11-month-old girl with CFNS was admitted due to polyuria, polydipsia, fatigue, and abdominal pain. On physical examination, she had the classical phenotypical features of CFNS. Genetic tests revealed a c.429_430insT (p.Gly144TrpfsTer31) heterozygote variant in the coding region. The patient was diagnosed with type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis based on laboratory findings and symptoms. The mother of the patient, who had the same CFNS phenotype and EFNB1 variant, was screened for autoimmune diseases and was also with autoimmune thyroiditis. This is the first report describing the association of CFNS with T1DM and autoimmune thyroiditis in patients with mutation.
颅额鼻综合征（CFNS），也称为颅额鼻发育异常，是一种由 Ephrin B1（）基因突变引起的 X 连锁遗传性发育畸形。该综合征的主要表型特征为冠状缝早闭、眼距增宽、鼻尖裂、头发干燥卷曲以及指甲纵裂。一名 9 岁 11 个月大的患有 CFNS 的女孩因多尿、多饮、疲劳和腹痛入院。体格检查时，她具有 CFNS 的典型表型特征。基因检测显示编码区存在 c.429_430insT（p.Gly144TrpfsTer31）杂合变异。根据实验室检查结果和症状，该患者被诊断为 1 型糖尿病（T1DM）和自身免疫性甲状腺炎。该患者的母亲具有相同的 CFNS 表型和 EFNB1 变异，对其进行自身免疫性疾病筛查后发现也患有自身免疫性甲状腺炎。这是首篇描述携带 突变的患者中 CFNS 与 T1DM 和自身免疫性甲状腺炎相关性的报告。
