Pubmed du 13/04/09

mercredi 15 avril 2009

1. Felder B, Radlwimmer B, Benner A, Mincheva A, Todt G, Beyer KS, Schuster C, Bolte S, Schmotzer G, Klauck SM, Poustka F, Lichter P, Poustka A. FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am J Med Genet A ;2009 (Apr 13)

We describe a patient with autism and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called Albright Hereditary Osteodystrophy-like syndrome or Brachydactyly-Mental Retardation syndrome, OMIM 600430). Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH), define the extent of the de novo deletion to a 3.5 Mb region on 2q37.3. Although a number of reports of patients with 2q37 deletion syndrome have been published, it remains unclear if gene expression and/or translation are altered by the deletion, thus contributing to the observed phenotypes. To address this question, we selected several candidate genes for the neuropsychiatric and skeletal anomalies found in this patient (autism and brachymetaphalangy). The deleted region in 2q37.3 includes the FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), glypican 1 (GPC1), vigilin (HDLBP), kinesin family member 1A (KIF1A) and proline-alanine-rich STE20-related kinase (PASK), all of which are involved in skeletal or neural differentiation processes. Expression analyses of these genes were performed using RNA from lymphoblastoid cell lines of the patient and his family members. Here we demonstrate that three of these genes, FARP2, HDLBP, and PASK, are considerably downregulated in the patient’s cell line. We hypothesize that haploinsufficiency of these genes may have contributed to the patient’s clinical phenotype. (c) 2009 Wiley-Liss, Inc.

2. Luong J, Yoder MK, Canham D. Southeast Asian Parents Raising a Child With Autism : A Qualitative Investigation on Coping Styles. J Sch Nurs ;2009 (Apr 13)

Autism is a developmental disability increasing in incidence over the past decade. Parents of children with autism experience prolonged levels of stress and isolation. Using qualitative research design, nine parents of children with autism participated in this study that focused on the effect of autism on the family, coping styles, and support systems. The target population was first-generation Southeast Asian American parents. Results revealed nine coping style patterns : (a) denial/passive coping, (b) empowerment, (c) redirecting energy, (d) shifting of focus, (e) rearranging life and relationships, (f) changed expectations, (g) social withdrawal, (h) spiritual coping, and (i) acceptance. The school was considered the primary supportive entity. Although findings may not be unique to the Southeast Asian group, the research provides an in-depth perspective on their lived experience, their struggles, and strengths. Insight gained from this investigation can help school nurses better understand the affect of autism on families, identify specific needs, and address these needs by advocating for appropriate supportive programs.

3. Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A ;2009 (Apr 13)

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. Recently, a new MeCP2 isoform was described, MeCP2_e1, which skips exon 2 and has an alternative N-terminus, translated from exon 1, whereas MeCP2_e2 is translated from a start codon in exon 2. Since the incorporation of exon 1 into standard sequencing protocols for RTT, few exon 1 mutations have been described and are thus assumed to be only rare causes of RTT. Also, studies have suggested that the frameshift mutations identified in exon 1 affect both isoforms. Our aim in this study was to assess the frequency of mutations in exon 1, their relationship to phenotype, and the implications on the etiological role for the isoform MeCP2_e1 in RTT, versus the previously described isoform, MeCP2_e2. We sequenced MECP2 in 51 females with various clinical presentations, including developmental delay, autism, atypical and classical RTT, referred to our laboratories for testing. In patients with identified mutations, X-chromosome inactivation was analyzed. We identified four patients with exon 1 mutations ; three were novel (c.1A > T ; c.1A > G ; c.5C > T), two of which affected the start codon, one a missense change, and one patient had a previously reported splice site mutation, c.62 + 1delGT. The four patients fit criteria for classical RTT, and thus these findings add support to previous reports that exon 1 mutations may be associated with a severe phenotype. Also, these findings add significant weight to the mounting evidence suggesting that the MeCP2_e1 isoform is the etiologically relevant form of the protein. (c) 2009 Wiley-Liss, Inc.











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