10.6084/m9.figshare.5126983.v1
Huckert M.
Huckert
M.
Mecili H.
Mecili
H.
Laugel-Haushalter V.
Laugel-Haushalter
V.
Stoetzel C.
Stoetzel
C.
Muller J.
Muller
J.
Flori E.
Flori
E.
Laugel V.
Laugel
V.
Manière M.-C.
Manière
M.-C.
Dollfus H.
Dollfus
H.
Bloch-Zupan A.
Bloch-Zupan
A.
Supplementary Material for: A Novel Mutation in the <b><i>ROGDI</i></b> Gene in a Patient with Kohlschütter-Tönz Syndrome
Karger Publishers
2014
Amelogenesis imperfecta
Epilepsy
Kohlschütter-Tönz syndrome
Leucine zipper domain
Mutations
ROGDI
2014-09-11 00:00:00
Dataset
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_A_Novel_Mutation_in_the_b_i_ROGDI_i_b_Gene_in_a_Patient_with_Kohlsch_tter-T_nz_Syndrome/5126983
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the <i>ROGDI</i> 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<i> ROGDI</i> 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.