| FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. | |
| | |
MedLine Citation:
|
PMID: 19365831 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Bärbel Felder; Bernhard Radlwimmer; Axel Benner; Antoaneta Mincheva; Grischa Tödt; Kim S Beyer; Claudia Schuster; Sven Bölte; Gabriele Schmötzer; Sabine M Klauck; Fritz Poustka; Peter Lichter; Annemarie Poustka |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 May |
Date Detail:
|
Created Date: 2009-05-04 Completed Date: 2009-06-18 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 952-9 Citation Subset: IM |
Affiliation:
|
Division of Molecular Genome Analysis, German Cancer Research Center (DKFZ), Heidelberg, Germany. |
| Data Bank Information | |
Bank Name/Acc. No.:
|
OMIM/600430 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Autistic Disorder / genetics* Chromosome Deletion* Chromosomes, Human, Pair 2 / genetics* Down-Regulation Gene Expression Regulation* Guanine Nucleotide Exchange Factors / genetics* Humans Male Microsatellite Repeats / genetics Protein-Serine-Threonine Kinases / genetics* RNA-Binding Proteins / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
|
0/FARP2 protein, human; 0/Guanine Nucleotide Exchange Factors; 0/RNA-Binding Proteins; 147605-06-9/high density lipoprotein binding protein; EC 2.7.1.11/PAS domain kinases; EC 2.7.11.1/Protein-Serine-Threonine Kinases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Clinical significance of the diagnosis of low-grade squamous intraepithelial lesion, cannot exclude ...
Next Document: Breast fine-needle aspiration samples reported as "proliferative breast lesion": clinical utility of...