一个基因中的新型新生变异导致一名马里女孩患锁骨颅骨发育不全症。
A novel de novo variant in the gene causes cleidocranial dysplasia in a Malian girl.
作者信息
Cissé Lassana, Yalcouyé Abdoulaye, Touré Kadidia Oumar, Coulibaly Youlouza, Maiga Alassane Baneye, Bamba Salia, Diallo Dramane, Diarra Salimata, Taméga Abdoulaye, Traoré Oumou, Kotioumbé Mahamadou, Sangaré Moussa Aly, Ba Hamidou Oumar, Simaga Assiatou, Koné Fatogoma Issa, Samassekou Oumar, Koné Amadou, Guinto Cheick Oumar, Landouré Guida
机构信息
Service de Neurologie, Centre Hospitalier Universitaire du Point G Bamako Mali.
Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali.
出版信息
Clin Case Rep. 2024 Feb 26;12(2):e8551. doi: 10.1002/ccr3.8551. eCollection 2024 Feb.
KEY CLINICAL MESSAGE
Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene.
ABSTRACT
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the gene causing a severe phenotype of CCD in a Malian girl.
关键临床信息
锁骨颅骨发育不全（CCD）是一种罕见的遗传性骨骼疾病，在非洲仅有少数病例报道，大多基于临床和放射学检查结果。我们报告了马里的首例病例，由RUNX2基因的一个新的新生变异所致。
摘要
锁骨颅骨发育不全（CCD）是一种罕见的常染色体显性骨骼发育不良，其特征为锁骨发育不全/发育不良、颅缝和囟门未闭合、牙齿异常以及多种其他骨骼变化。我们报告了一名马里女孩中该基因的一个新的新生变异，其导致了严重的CCD表型。
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