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SALSA MLPA KIT P080 CRANIOFACIAL
CRANIOFACIAL DISORDERS can be caused by severs genes, including FGFRs, TWIST, MSX2, ALX4, RUNX2. FGFR1, FGFR2 and FGFR3 genes encode for the fibroblast growth factor receptor and cause a diverse group of skeletal disorders, such as Osteoglophonci dysplasia. In general, mutations in FGFR1 and FGFR2 cause most of the syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutations. The FGFR1 gene is localized in 8p12-p11.2, FGR2 in 10q26, FGFR3 in 4p16.3. FGFR3 contains 19 exons spanning 16.5 kb. FGFR4 gene spans approximately 11.3 kb and is composed of 18 exons ranging in size from 17 to 600 nt on 5q35.1-qter. FGFR4 is involved in cancer progression and metastasis. TWIST may affect the transcriptions of the FGFRs, as a upstream regulator of FGFRs. Disruption of TWIST is the cause of Saethre-Chotzen syndrome. An estimated 11 % of Saethre-Chotzen syndrome patients have a deletion of the TWIST gene. Included in this probemix is also a probe for the TWISTNB (TWIST nearby) gene located at a distance of 500 Kb from TWIST. Large deletions of the TWIST region often result in mental retardation. TWIST (TWIST1) is a 2 exon gene on chromosome 7p21. MSX2 is a 2 exon gene on chromosome 5q35.2. MSX2 dosage is critical for human skull development. Enlarged parietal foramina and craniosynostosis can result, respectively, from loss and gain of activity in an MSX2 pathway of calvarial osteogenic differentiation. ALX4 is a 4 exon gene on chromosome 11p11.2. The gene covers 45 Kb of chromosomal sequence. Potocki-Shaffer syndrome, also known as the proximal 11p deletion syndrome, is a contiguous gene syndrome caused by deletion of the 11p13-p11 region. Mutations in ALX4 can result in parietal foramina as well as craniosynostosis (premature fusion of the cranial sutures). RUNX2 (CBFA1) is a 7 or 8 exon gene on chromosome 6p21.1. The gene covers approximately 125 Kb of chromosomal sequence. Defects in the RUNX2 gene are the cause of the autosomal dominant disorder cleidocranial dysplasia which is characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. EFNB1; Craniofrontonasal dysplasia (CFND), or craniofrontonasal syndrome (CFNS), is characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails, and other digital anomalies. The Craniofrontonasal syndrome is caused by heterozygous loss-of-function mutation in the EFNB1 gene. EFNB1 gene, locate on Xq12, comprises 13.17 kb and 5 exons.
Full mix description (word)
Full mix description (pdf)
Last Update Probe mix description: Vs. 06; 02-01-2007 Last change in probe mix content: Lot 1106 (November 2006) Current Lot Number.: Lot 1106
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References 2006-- Mutations causing craniosynostosis, cleidocranial dysplasia and parietal foramina detected by the craniofacial molecular service in Oxford, UK. Abstract ESHG 2006.
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