General information
The SALSA MLPA
Probemix P183 EDA-EDAR-EDARADD is a
research use only (RUO) assay for the detection of deletions or duplications in the genes
EDA,
EDAR,
EDARADD and
WNT10A, which are associated with hypohidrotic ectodermal dysplasia (HED).
X-linked HED (XLHED) is the most common form of ectodermal dysplasia (ED) in humans, with an incidence of approximately 1 per 100,000 births. This syndrome is characterised by absence or aberrant development of exocrine sweat glands, leading to heat intolerance with excessively dry skin, abnormal spiky or absent teeth and sparse hair on the scalp and body. These structures are affected together or in different combinations. It has been shown that mutations of the X-linked
EDA gene are the major causative factor for this disorder.
EDA encodes the ectodysplasin A (EDA) protein, which has been recognised as a member of the tumour necrosis factor (TNF) superfamily.
EDAR encodes the ectodysplasin A receptor. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.
EDARADD encodes the
EDAR-associated death domain protein which is also involved in ectodermal dysplasia.
WNT10A belongs to the WNT gene family, which encodes secreted signalling proteins.
The
EDA (
ED1) gene (8 exons) spans ~423 kb of genomic DNA and is located on Xq13.1, 69 Mb from the p-telomere. The
EDAR gene (12 exons) spans ~95 kb of genomic DNA and is located on 2q13, 109 Mb from the p-telomere. The
EDARADD gene (6 exons) spans ~91 kb of genomic DNA and is located on 1q43, 235 Mb from the p-telomere. The
WNT10A gene (4 exons) spans ~13 kb of genomic DNA and is located on 2q35, 219 Mb from the p-telomere.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1112/.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content
The SALSA MLPA Probemix P183-C1 EDA-EDAR-EDARADD contains 48 MLPA probes with amplification products between 130 and 503 nucleotides (nt). This includes 11 probes for the
EDA gene (one for each exon present in transcript variant 1 (NM_001399.5), two probes for exons 1, 2 and 8), 12 probes for the
EDAR gene (one for each exon), nine probes for the
EDARADD gene (one for each exon present in transcript variant A (NM_145861.4), two probes for exons 1, 4 and 5), and four probes for the
WNT10A gene (one for each exon). This probemix furthermore contains one flanking probe upstream of
EDA and two additional flanking probes further away on the X chromosome. In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mrcholland.com.