Genomics Precision Diagnostic > Dermatology Precision Panel > Ectodermal Dysplasia Precision Panel

Ectodermal Dysplasia Precision Panel

Ectodermal Dysplasias (EDs) are a heterogeneous group of approximately 200 inherited disorders characterized by anomalies in at least two of the structures derived from embryonic ectoderm, with at least one involving skin appendages (hair, nails, sweat glands).

Overview

Ectodermal Dysplasias (EDs) are a heterogeneous group of approximately 200 inherited disorders characterized by anomalies in at least two of the structures derived from embryonic ectoderm, with at least one involving skin appendages (hair, nails, sweat glands). Other tissues that can be involved include mammary glands, adrenal medulla, central nervous system, inner ear etc. Eds are congenital, diffuse and nonprogressive. Ectodermal dysplasias caused by genetic mutations include hypohidrotic ED, hypohidrotic ED with immune deficiency and hidrotic ED, the most common being X-linked recessive hypohidrotic ectoderma dysplasia, also known as Christ-Siemens-Touraine syndrome. Morbidity and mortality is related to the absence or dysfunction of eccrine and mucous glands. Beyond early childhood, life expectancy ranges from normal to slightly reduced.
The Igenomix Ectodermal Dysplasias Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Ectodermal Dysplasias Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Hyperthermia with fever and seizures
- Decreased tears (xerophthalmia) and conjunctivitis
- Deficient hearing or vision
- Decreased saliva (xerostomia) and frequent dental caries
- Developmental delay
- Dysphagia
- Growth failure
- Frequent upper respiratory tract infections

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of multidisciplinary treatment in the form of medical care encouraging protective hydrating routines, dental evaluation and antibiotic treatment to prevent complications. Surgical care may be needed.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

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GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*BCS1L*	Bjornstad Syndrome, Gracile Syndrome, Leigh Syndrome, Mitochondrial Complex Iii Deficiency	AR,MI	99.96	40 of 42
*CDH3*	Eem Syndrome, Hypotrichosis, Congenital, Macular Degeneration	AR	95	34 of 36
*DLX3*	Amelogenesis Imperfecta, Trichodento- osseous Syndrome	AD	100	10 of 10
*DSP*	Right Ventricular Dysplasia, Cardiomyopathy, Woolly Hair, Palmoplantar Keratoderma, Toothagenesis, Epidermolysis Bullosa, Carvajal Syndrome, Pulmonary Fibrosis	AD,AR	99.91	366 of 369
*EDA*	Ectodermal Dysplasia, Tooth Agenesis, Oligodontia	X,XR,XD,G	98.99	–
*EDAR*	Ectodermal Dysplasia,	AD,AR	100	69 of 69
*EDARADD*	Ectodermal Dysplasia, Oligodontia	AD,AR	100	10 of 10
*ERCC2*	Cerebroo- culofacioskeletal Syndrome, Trichothiodystrophy, Xeroderma Pigmentosum, Cofs Syndrome	AR	100	102 of 102
*EVC*	Ellis-Van Creveld Syndrome, Weyers Acrofacial Dysostosis, Acrofacial Dysostosis	AD,AR	94.04	68 of 73
*EVC2*	Ellis-Van Creveld Syndrome , Weyers Acrofacial Dysostosis, Acrofacial Dysostosis	AD,AR	99.98	75 of 75
*GJB2*	Deafness, Ichthyosis, Palmoplantar Keratoderma , Knuckle Pads, Kid Syndrome	AD,AR,X,XR,MU,D,G	99.89	413 of 419
*GJB6*	Deafness, Ectodermal Dysplasia, Kid Syndrome	AD,AR,X,XR,MU,D,G	99.89	28 of 28
*GRHL2*	Corneal Dystrophy , Deafness, Ectodermal Dysplasia	AD,AR	100	8 of 11
*HOXC13*	Ectodermal Dysplasia	AR	99.69	7 of 7
HR	Alopecia Universalis, Atrichia, Marie Unna Hypotrichosis	AD,AR	99.94	52 of 52
*IFT122*	Cranioectodermal Dysplasia	AR	99.83	22 of 22
*JUP*	Right Ventricular Dysplasia, Naxos Disease, Lethal Acantholytic Epidermolysis Bullosa	AD,AR	100	56 of 56
*KDF1*	Ectodermal Dysplasia	AD	–	–
*KREMEN1*	Ectodermal Dysplasia	AR	93.48	5 of 5
*KRT74*	Ectodermal Dysplasia, Hypotrichosis, Woolly Hair	AD,AR	100	4 of 4
*KRT85*	Ectodermal Dysplasia	AR	100	6 of 6
*LRP6*	Coronary Artery Disease, Tooth Agenesis, Oligodontia	AD	100	44 of 44
*LTBP3*	Geleophysic Dysplasia, Platyspondyly, Amelogenesis Imperfecta, Acromicric Dysplasia	AD,AR	97.67	22 of 23
*MBTPS2*	Ichthyosis Follicularis, Atrichia, Photophobia, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Palmoplantar Keratoderma, Bresek Syndrome	X,XR,G	100	–
*MPLKIP*	Trichothiodystrophy	AR	100	13 of 13
*MSX1*	Tooth Agenesis, Witkop Syndrome, Cleft Lip/Palate, Hypodontia, Oligodontia	AD	99.54	50 of 51
*NECTIN1*	Cleft Lip/Palate, Ectodermal Dysplasia	AR	100	–
*NECTIN4*	Ectodermal Dysplasia, Syndactyly	AR	100	–
*NFKBIA*	Ectodermal Dysplasia, T-Cell Immunodeficiency	AD	99.98	13 of 13
*NLRP1*	Autoinflammation, Arthritis, Dyskeratosis, Corneal Intraepithelial Dyskeratosis, Ectodermal Dysplasia, Respiratory Papillomatosis	AD,AR,MU,P	99.37	15 of 15
*ORAI1*	Immunodeficiency, Myopathy, Stormorken- Sjaastad-Langslet Syndrome	AD,AR	91.93	20 of 22
*PAX9*	Tooth Agenesis, Oligodontia	AD	100	53 of 55
*PKP1*	Ectodermal Dysplasia, Skin Fragility Syndrome, Epidermolysis Bullosa	AR	100	18 of 18
*PORCN*	Focal Dermal Hypoplasia	X,XD,G	100	–
*PRKD1*	Congenital Heart Defects, Ectodermal Dysplasia	AD	97.39	8 of 9
*RMRP*	Anauxetic Dysplasia, Cartilage- Hair Hypoplasia, Metaphyseal Dysplasia, Omenn Syndrome	AR	–	–
*TP63*	Adult Syndrome, Ankyloblepharon, Cleft Lip/Palate, Ectrodactyly, Ectodermal Dysplasia, Limb-Mammary Syndrome, Rapp-Hodgkin Syndrome, Split-Hand And Foot Malformation, Bladder Exstrophy, Eec Syndrome	AD	99.98	144 of 144
*TWIST2*	Ablepharon- Macrostomia Syndrome, Barber-Say Syndrome, Focal Facial Dermal Dysplasia	AD,AR	99.82	9 of 9
*WDR35*	Cranioectodermal Dysplasia, Short-Rib Thoracic Dysplasia, Polydactyly, Short Rib- Polydactyly Syndrome	AR	100	31 of 33
*WNT10A*	Odontoony- chodermal Dysplasia, Schopf-Schulz- Passarge Syndrome, Tooth Agenesis, Oligodontia	AD,AR	99.91	90 of 90

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Ectodermal Dysplasia Precision Panel

Ectodermal Dysplasias (EDs) are a heterogeneous group of approximately 200 inherited disorders characterized by anomalies in at least two of the structures derived from embryonic ectoderm, with at least one involving skin appendages (hair, nails, sweat glands).

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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