Huckert Mathilde, Mecili Helen, Laugel-Haushalter Virginie, Stoetzel Corinne, Muller Jean, Flori Elisabeth, Laugel Vincent, Manière Marie-Cécile, Dollfus Hélène, Bloch-Zupan Agnès
Faculty of Dentistry, University of Strasbourg (UdS), France ; Reference Center for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), France ; Laboratoire de Génétique Médicale, INSERM UMR_S 1112, Strasbourg Medical School, UdS, France.
Centre de Référence des Maladies Neuromusculaires d'Origine Génétique de l'Enfant et l'Adulte, Hôpital de Hautepierre, HUS, France.
Mol Syndromol. 2014 Dec;5(6):293-8. doi: 10.1159/000366252. Epub 2014 Sep 11.
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel ROGDI homozygous mutation NM_024589.1: c.117+1G>T [Chr16 (GRCh37): g.4852382C>A] which confirmed the diagnosis of Kohlschütter-Tönz syndrome. The mutation abolishes the usual splice donor site of intron 2 which leads to the deletion of exon 2 and in-frame assembly of exon 3. Exon 2 encodes a highly conserved leucine-rich region that is essential for ROGDI protein function. Hence, this deletion may affect the function of the ROGDI protein.
科尔施许特-滕茨综合征（KTZS）是一种由ROGDI基因突变引起的常染色体隐性疾病。该综合征的特征为癫痫、精神运动发育迟缓及牙釉质发育不全。在本文中，我们报告了一名患有这种罕见疾病的13岁马里女孩的病例。通过基因分析，我们鉴定出一种新的ROGDI纯合突变NM_024589.1：c.117+1G>T [Chr16 (GRCh37): g.4852382C>A]，这证实了科尔施许特-滕茨综合征的诊断。该突变消除了内含子2通常的剪接供体位点，导致外显子2缺失以及外显子3的框内组装。外显子2编码一个对ROGDI蛋白功能至关重要的高度保守的富含亮氨酸区域。因此，这种缺失可能会影响ROGDI蛋白的功能。
