Incontinentia pigmenti (IKBKG), Frequent DEL/INS, biological sample

New Test in NOÛS Catalog

Test Code: 7440

Sample:	Biological Sample
Conservation:	Refrigerated
Method:	Multiplex Ligation-dependent Probe Amplification-MLPA
Set Up Days:	Daily
Delivery term:	22 days
Information:
Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes and the central nervous system. Characteristic skin lesions evolve through four stages: 1) blisters (from birth to the age of around four months); 2) an eruption similar to warts (during several months); 3) swirling macular hyperpigmentation (age around six months to adulthood), and ') linear hypopigmentation. The diagnosis of IP is based on clinical findings and molecular genetic tests of IKBKG (formerly NEMO), the only gene known to be associated with IP. A deletion that eliminates the exons ' through 10 of IKBKG is present in approximately 80% of the affected individuals. IP is inherited in X-linked form. IP is a lethal embryonic disease that affects many gestations in which the foetal sex is masculine. Affected males that survive can have karyotype '7, XXY or somatic mosaicism due to the common IKBKG deletion. A female with IP may have inherited the IKBKG mutation from the mother or have a de novo mutation. The parents can be clinically affected or be unaffected, but have germline mosaicism. Affected women have a 50% chance of transmitting the mutant IKBKG allele at conception; however, male conceptuses with a loss-of-function mutation of IKBKG miscarry. Thus, the expected ratio among children born live is approximately 33% unaffected females, 33% affected females, and 33% unaffected males. Prenatal testing for high-risk pregnancies is possible if the disease-causing mutation in the family has been identified.

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