2015 / ENGLISH

M. Huckert, C. Stoetzel, S. Morkmued, V. Laugel-Haushalter, V. Geoffroy, J. Muller, F. Clauss, M. K. Prasad, F. Obry; J.L. Raymond, M. Switala, Y. Alembik, S. Soskin, E. Mathieu, J. Hemmerle, J.-L. Weickert, B. Dabovic, D. B. Rifkin, A. Dheedene, E. Boudin, O. Caluseriu, M.-C. Cholette, R. McLeod, R. Antequera, M.-P. Gelle, J.-L. Coeuriot, L.-F. Jacquelin, I.Bailleul-Forestier, M.-C. Maniere, W. Van Hul, D. Bertola, P.Dolle, A. Verloes, G. Mortier, H. Dollfus, A. Bloch-Zupan

Human Molecular Genetics 2015. doi: 10.1093/hmg/ddv053

2014 / ENGLISH

Bloch-Zupan A, “Genetics Alterations: Heritable Dentin Defects” in Goldberg M. (ed.), The Dental Pulp, DOI 10.1007/978-3-642-55160-4_11, Springer-Verlag Berlin Heidelberg 2014, p.155-168.

“Dentin defects that accompany rare genetic diseases[1,2] (diseases, that by definition affect less than 1/2,000 individuals) can be described phenotypically by various types of anomalies that not only impait the formation and structure of the dentin and per se the color of the teeth but also cause anormales of the crown, root, and/or pulp space shape and aberrantdentin formation such as pulpolithes or intrapulpal calcifications”

2014 / ENGLISH

Huckert M, Mecili H, Laugel-Haushalter V, Stoetzel C, Muller J, Flori E, Laugel V, Manière MC, Dollfus H, Bloch-Zupan A.
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.”

2014 / ENGLISH

A.S. Kaiser, B. Maas, A. Wolff, C. Sutter, J.W.G. Janssen, K. Hinderhofer, U. Moog.
European Journal of Human Genetics, 13 August 2014; doi:10.1038/ejhg.2014.163.

“SATB2, a gene encoding a highly conserved DNA-binding protein, is known to have an important role in craniofacial and neuronal development. Only a few patients with SATB2 variants have been described so far. Recently, Döcker et al provided a summary of these patients and delineated the SAS (SATB2-associated syndrome). We here report on a girl with itellectual disability, nearly absent speech and suspected hypodontia who has shown to carry an intragenic SATB2 tandem duplication hypothesized to lead to haploinsufficiency of SATB2. Preliminary information on this patient had already benn included in the article by Döcker et al. We want to give a detailed description of the patient’s phenotype and genotype, providing further insight into the spectrum of the molecular mechanisms leading to SAS. (…)”

2014 / DEUTSCH

S. Feierabend.
Oralprophylaxe Kinderzahnheilkd 2014;36:26-31
DOI 10.3238/OPKZH.2014.0026-0031

“Während in der Humanmedizin die Entdeckung genetischer Grundlagen verschiedener Erkrankungen zum medizinischen Alltag gehört, gewinnt dies in der Zahnmedizin erst langsam an Bedeutung. Insbesondere bei Patienten mit Seltenen Erkrankungen kann oft erst die Genetik Aufschluss über die Krankheitsursache geben. (…)”

2014 / DEUTSCH
S. Feierabend.
wissen kompakt 2014. 8:13-25 DOI 10.1007/s11838-013-0193-8, 23. Januar 2014

“Die verschiedenen Strukturanomalien der Zähne sind in ihrer Summe verhältnismässig häufig in der zahnärztlichen Praxis anzutreffen. Die wissenschaftliche Grundlage zur Behandlung dieser Erkrankungen steht dagegen auf keiner breitgefâcherten Basis, da die einzelne Erkrankung wiederum zu selten vorkommt, um Studien mit hohem Evidenzniveau durchführen zu können. Für die zahnärztliche Therapie dieser Zahnveränderungen ist es essenziell, die richtige Diagnose zu stellen, um das Verfahren mit der günstigten Prognose anwenden und so auch das entsprechende Material auswählen zu können. (…)”

2014 / ENGLISH

V. Laugel-Haushalter, M. Paschaki, P. Marangoni, C. Pilgram, A. Langer, T. Kuntz, J. Demassure, S. Morkmued, P. Choquet, A. Constantinesco, F. Bornert, M. Schmittbuhl, S. Pannetier, L. Viriot, A. Hanauer, P. Dollé, A. Bloch-Zupan. (2014).
PloS ONE 9(1):e84343. Doi:10.1371/journal.pone.0084343

“The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. (…)”

2013 / ENGLISH

B. Gasse, E. Karayigit, E. Mathieu, S. Jung, A. Garret, M. Huckert, S. Morkmued, C. Schneider, L. Vidal, J. Hemmerlé, J.-Y. Sire, A. Bloch-Zupan.
Journal of Dental Research, 2013.

“In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new casual Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop cordon (p.N120fz*2). (…)”

2013 / ENGLISH

V. Laugel-Haushalter, M. Paschaki, C. Thibault-Carpentier, D. Dembelé, P. Dollé, A. Bloch-Zupan.
BMC Research Notes 2013, 6 : 113.

“One of the key questions in developmental biology is how, from a relatively small number of conserved signalling pathways, is it possible to gnerate organs displaying a wide range of shapes, tissue organization, and function. The dentition and its dinstinct specific tooth types represent a valuable system to address the issues of differential molecular signatures. (…)”

2013 / FRANCAIS

P. Levigne, C. Cordier, A. Bloch-Zupan.
Revue d’ODF, Revue Orthopédique Dento faciale 2013 ; 47 : 421-431.

“Le développement de la médecine bucco-dentaire prédictive est porteuse de beaucoup d’espoirs mais des dérives sont toujours possibles. Les tests génétiques étant en première ligne de cette médecine prédictive, une législation a été établie encadrant l’activité relative à la génétique à la fois ouverte sur les avancées que pevent apporter ces tests génétiques et, en même temps, respectueuse des droits fondamentaux des patients et plus particulièrement des mineurs. (…)”