A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

Molecular Syndromology

Virginie Laugel-Haushalter¹  Corinne Stoetzel¹  Hélène Dollfus¹  Jean Muller¹  Marie-Cécile Manière¹  Agnès Bloch-Zupan¹  Mathilde Huckert¹  Helen Mecili¹  Vincent Laugel¹  Elisabeth Flori¹ 

[1] aFaculty of Dentistry, University of Strasbourg (UdS), Strasbourg, France

关键词: Amelogenesis imperfecta;    Epilepsy;    Kohlschütter-Tönz syndrome;    Leucine zipper domain;    Mutations;    ROGDI;   

DOI  :  10.1159/000366252

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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 {"type":"entrez-nucleotide","attrs":{"text":"NM_024589.1","term_id":"13375778","term_text":"NM_024589.1"}}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.

【 授权许可】

Unknown