NDLI: Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

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Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

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Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Au, P. Y. Billie Argiropoulos, Bob Parboosingh, Jillian S. Micheil Innes, A.
Description	Country affiliation: Canada Author Affiliation: Au PY ( Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.)
Abstract	A clinically recognizable syndrome associated with 1q41q42 microdeletion has recently been described in the literature (OMIM 612530). Patients with microdeletions in this region of chromosome 1 typically have developmental delay, characteristic dysmorphic features, and a predisposition to seizures. Malformations such as congenital diaphragmatic hernia and cleft lip have also been described. There has been considerable interest in mapping the smallest region of overlap for this syndrome in order to identify the critical pathogenic genes. The smallest region of overlap has recently been refined to a region encompassing four genes. Using array comparative genome hybridization (array CGH), we have identified a female with a 590-kB deletion within chromosome1q41q42. This patient's deletion further refines the previously defined region of overlap to a single gene, FBXO28. We propose that FBXO28 is a possible candidate causative gene contributing to the intellectual disability and seizure phenotype observed in 1q41q42 microdeletion syndrome.
File Format	HTM / HTML
ISSN	15524825
Issue Number	2
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-02-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 1 Intellectual Disability Genetics Skp Cullin F-box Protein Ligases Seizures Adolescent Child Child, Preschool Comparative Genomic Hybridization Facies Female Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Syndrome Case Reports Journal Article Research Support, Non-u.s. Gov't Review
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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