9th International workshop on Fragile X syndrome and X-linked mental retardation

The ninth in this series of international workshops was held at “Le Bischenberg”, Obernai, Strasbourg, France, on 23–25 August, 1999, the same exquisite location of the fifth workshop organized by Jean-Louis Mandel with the exciting reports on the FMR1-gene discovery. The meeting was organized by the European XLMR Consortium (Jamel Chelly (Paris), Jean-Pierre Fryns (Leuven), Ben Hamel (Nijmegen), Claude Moraine (Tours), Hans-Hilger Ropers (Berlin), and Jean-Louis Mandel (Illkirch). Local organizers were Claude Stoll (Strasbourg) and Jean-Pierre Fryns (Leuven)), although major part of the work of organization was ably performed by Marleen Van Leemputten. The meeting was well attended, with 133 participants from 24 countries. The meeting opened with an invited lecture by Gillian Turner on “The History of X-Linked Mental Retardation.” The first part of the meeting was on X-linked mental retardation (XLMR) (36 platform presentations) with two clinical sessions chaired by Jean-Pierre Fryns, Lisbeth Tranebjaerg, Charles Schwartz and Didier Lacombe, a session on XLMR-mapping chaired by Laurent Villard and John Mulley, a session on new and candidate genes chaired by Hans-Hilger Ropers and Ben Hamel, a session on XLMR-molecular screening chaired by Jean-Louis Mandel and Claude Moraine, and a session on XLMR-new technologies (microarrays in gene finding and mutation analysis) chaired by Ted Brown and Hans Van Bolhoven with excellent contributions by Jean-Louis Mandel, Hans-Hilger Ropers and David Nelson. Ben Hamel presented the Update 2000 on syndromic XLMR genes [Hamel et al., 2000]. The XLMR part ended by a session on “Cellular Molecular Mechanisms in Neurodevelopment and -Function” chaired by Jamel Chelly and David Nelson, with two invited lectures by Ger Ramakers [Ramakers, 2000] and Ligun Luo, and the “Update 2000 on XLMR Linkage Data and New Genes” by Jamel Chelly [Chelly, 2000]. The Fragile X part of the conference (29 platform presentation) included a clinical session (chair: Gillian Turner and Michael Partington), a psychology session (chair: Martine Borghgraef and Claude Stoll), a session on population screening (chair: Angela Vianna-Morgante and James MacPherson), and two sessions on the molecular basis of Fragile X syndrome (chair: Ben Oostra, Peter Steinbach, André Hanauer, Paul Hagerman). The session on 37 posters, on XLMR and Fragile X syndrome, was chaired by Francis Rousseau and Gene Fisch. At the end of the meeting there was a lively discussion to determine the site of the next meeting, that will be in Italy at the Lago di Garda and will be hosted by Daniela Toniolo and Giovanni Neri. The session contained 6 presentations. Maarit Peippo described a family with variable severity of the same symptoms in a mother and her son manifesting microcephaly, hearing loss, epilepsy, ataxia and cerebellar hypoplasia. No genetic mapping-information was given. Muscle-biopsy and VEP were normal. The question was raised whether it could be X-linked or autosomal dominant inheritance. Based on the experience from a later presentation during the workshop, by Elke Holinski-Feder, the possibility of submicroscopic chromosomal telomeric deletion is worth exploring. Didier Lacombe reported 3 cases of the so called W Syndrome. He discussed the degree of clinical variation, that could lead to lack of complete ascertainment from previous estimates of the occurrence of the syndrome. Another two presentations by, respectively, Roger Stevenson, and Charles Schwartz, both from the Greenwood Genetic Center group, tried to analyze 2 clinical findings in greater detail: the hypotonic face and spasticity. Even if the hypotonic face is a nonspecific finding it is possible to analyze the upper, mid and lower third of the face of each patient in a more systematic fashion, but no scoring system was suggested. Based on this systematic approach, families with new syndromes had been picked as candidates for mutations in the ATRX-gene, that definitely has a hypotonic face as a very prominent finding. In the upper part of the face, hypotonia manifests as puffiness, perhaps ptosis of eyelids, or a thick upper eyelid. In the mid-part of the face it manifests as a thick helix and thick alae nasi. In the lower part of the face it manifests as an open mouth and prominent lips. Examples were given of syndromes where this is very prominent such as ATRX, Chudley-Lowry and Coffin-Lowry, Juberg-Marsidi, Carpenter, Holmes-Gang, Finemann-Smith-Myers syndromes, whereas it is not present in X-linked lissencephaly. Sabine Dassay discussed the clinical characteristics in her families with FG syndrome. Previously genetic heterogeneity along the X chromosome had been indicated, but she discussed whether the actual family suffered from a different syndrome, based on clinical dissimilarity. She had performed X inactivation studies in 10 families, and in 5 of them found random X inactivation. Finally, Connie Schrander-Stumpel reported a family with complicated spastic paraplegia and evidence for the disease not mapping to the L1-CAM region, but rather pointing to a possible locus on Xp21.1–Xq21.3 and Xq22.1–Xq26.3. Candidate genes, such as the PLP gene and Synapsin 1 gene, were investigated and no mutations were found. The responsible gene remained to be identified. The initial two presentations in this session dealt with clinical delineation of the mitochondria problems associated with the Mohr-Tranebjaerg syndrome (MTS). Three subsequent talks presented data on two new XLMR syndromes and the analysis of a family with ATR16. The final presentation was an update of the XLMR syndromes. MTS comprises deafness, dystonia and MR. The gene for MTS had previously been cloned [Jin et al., 1996] and was named DDP for deafness/dystonia peptide. Recently, Koehler et al. [1999] provided evidence that DDP, also known as TIM8p, mediates the import of transporters from the cytoplasm into the mitochondrial inner membrane, showing MTS to be a mitochondrial disorder. In view of these findings, two groups presented and at the mitochondrial of with Ben Hamel described 2 families with 3 with In a mutation in DDP to deafness, and of and screening were as were and The family had a with and associated with was also had cerebellar and dystonia or MR. family had a deletion that 2 of DDP as well as an of that be associated with mitochondrial and by an were normal. family is of to the variable presentation in the and not of could be by the of the disease in the the not MR. Lisbeth presented the clinical and findings in a of with of the had mutations of DDP whereas the also by group, had a mutation that the in the was the lack of these of on whereas had and of there was a in in the finding was the of that is to in the MTS The of this is not at Elke presented a 5 family in the had and Linkage analysis this family to to rather the analysis a deletion of in the and a in the the in this family into the syndrome and No was of family The was to been presented by David but with from the The dealt with the and of a new XLMR syndrome by the of and described the analysis in an XLMR family in the had and spastic and new XLMR syndrome to by and candidate genes included a and an The presentation of the session was an XLMR syndrome update by Ben At this XLMR were identified. of new XLMR syndromes, and of new genes is presented in this [Hamel et al., 2000]. the of and in the of but for nonspecific X-linked mental retardation has to genes for in where inactivation is no or of at is to with from the of the X the the in each families an but for mutation screening to the of genes for The present that of genes and that will for very of the families that that genes from the candidate genes be to where families with that gene from the of families be more families to a candidate gene as an families to for the of of genes responsible for is by and of the X The families so been the or of is the gene to that is responsible for mental is also responsible for a of the families that nonspecific of such families been the given the and variable of mental The location of genes for of will to the in both the ascertainment of these families and in the and autosomal genes for nonspecific mental retardation as a but is an mapping in families with John reported on a with a and and MR. gene by the had been 3 that is a and in No been found so in family with an X-linked in families with XLMR will be The presented of the of deletion with 10 gene X was to a gene family that at on and had or or whereas with both and that is for In 5 families, no mutations were found. reported on associated with a gene syndrome of gene gene and gene was that was called based on to the known in syndrome and No mutations been found so in a of with X-linked inheritance. presented a patient with a syndromic of and a Molecular analysis of the contained no a to gene, a The of is is in of mutation screening performed a systematic analysis of in and 1 with is the gene in X-linked syndrome. In cases mutations were found. was not found. mutations were also found in with lissencephaly. Jamel Chelly presented exciting data on 2 new genes in The first gene named of to was two in in with was found in of family with The of is but it be in and in the of in the and The gene named to the was the X in a with and and a in 2 families with XLMR mutations and were found. major of the family is to with such as and is also but could a in organization and of X-linked mental retardation (XLMR) is a very and comprises and mental retardation different been described in the and of the genes to be that for more of studies performed in families more that to genes, genetic to molecular studies performed by mapping and on in and by candidate genes that in the by genes in At this a of the different that were for genes by studies not known to candidate genes or to to or more of the of the genes has mutations in a of as presented by for and by Jamel for data that the of in the different in or more known or mutations in genes, of them not in or mutations in genes that known to be in X-linked and in to be a in X-linked and at been reported so in X-linked and in and PLP both in and in syndrome. the clinical is in families with known or it is to known genes in families with XLMR mapping in the same region, but different from the described syndrome Laurent Villard reported in this session a mutation in the gene, different in and from that found in the syndrome, in a family as syndrome, or described a mutation in the gene in a family with mental syndrome the same Hans families by mutations in of genes that not in the Finally, it not be that the of mutations in the different genes in be different in different studies as reported by from the European XLMR will both the of for new genes or at and the of families to the candidate genes or for different mutations at different data that there be to genes in nonspecific XLMR and perhaps an mental The known genes each a to the of that major problems to the of these genes in a it is and to genes that more in mental such as the a of mental retardation be the of it will be to mutation analysis for the of mutations in of that for this were discussed in this new be not for mutation analysis of known genes, but be also for the of has a for that to of or Gene is well for screening major genes that in in but this not to no that were for analysis of such to be of and on to be the in the not for new to Ropers and Mandel both to to for the of new mutations in known and to such be for studies deletion screening mutation screening and Mandel also that with such be for the of The this is that of the genes that will be in will be in as in and mutation in an gene a by or the to a of In the will be from from these and in for genes or a of genes and of the will a the of from with of it be possible to genes that in or genes that in an experience is it that the of this has to be to be also for mutation Ropers is along two The first is a in an at to each and that at end the or The be by in a that of the gene as a has been in a in 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The session for the workshop a of on the mutation in and to a the mutation and studies of the X syndrome the of presented findings from her showing with the mutation with of provided a of an with the mutation and presented from and characteristics of and with the 1 and syndrome found in and with and but not with reported on family in found of on and for whereas of and were more with reported on the of genetic for to for the for clinical in of symptoms associated with were also presented from of the of to for the of the of on and in and and found a in the that and in on the of X were in X and found were at of mutation Angela Vianna-Morgante in mutation and and found the mutation whereas the more to screening and with mental retardation analysis and found found of and in to James reported on screening for mutations with or clinical and in a of in clinical to the of and analysis for of mutations and reported on the of and in the presented the of in in presented a of the of mutations in presented her of associated with of in an population in two were found. discussed were studies on the of reported on in families with The of were found in the group, of were 1 or 2 in the into a in was from the same group, reported on the of in presented data on the of that to to a mutation in and of were by reported a of and in investigated of the and of reported on the of to of gene with were two presentations on the of the mutation on and in with the and found with the mutation in of whereas and to the of the mutation on and that it not to of to The to as a investigated the of of and and found these in and during of analysis and was to and a new in with the gene to no presentation) in at different and found both and greater to of in were clinical studies the gene as well as a with mental retardation and a and a the a and with the presented a clinical of the mutation in a family with and were found in both the and presented clinical and molecular findings in families with possible syndrome two of families were found for of The Molecular on di di of The et et Laurent Strasbourg, France, France, of The Martine Center for of Ted New for in of Jamel 24 France, of The France, of France, The di of The The of the of 2000 France, 24 France, Sabine 2 France, Center for Gene New France, Center for France, Jean-Pierre Fryns, for of of of Fragile X Center The of di of of Paul and Molecular of of Fragile X and The Ben Hamel, of The André Hanauer, Laurent France, Fragile X and of Fragile X and of The John Elke Holinski-Feder, of The and of The Laurent France, for in The John of Molecular and of of Didier Lacombe, France, Center for of of Luo, James Jean-Louis Mandel, 1 Laurent France, France, of of Claude Moraine, 2 France, of and of John Mulley, and Molecular and for on Mental and David Nelson, of Molecular of for Hans Fragile X and of of Ben Oostra, The Michael of The of and of 1 Maarit of Francis of The and for The of of Molecular Fragile X and Hans-Hilger Molecular of The Charles Schwartz, Center for Molecular Greenwood Genetic 1 Peter Steinbach, of Roger Stevenson, Greenwood Genetic 1 Center for of Claude France, of Genetic of Molecular Daniela of di Italy France, Lisbeth of of of Gillian X Hans Van of The Van or di Italy Angela Laurent France, France, of of The The of The New for

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