Linkage studies have been performed in 5 incontinentia pigmenti (IP) families totaling 29 potentially informative meioses. Ten probes of the Xp arm were used, six of them were precisely localized on the X chromosome, using hamster X human somatic cell hybrids containing a broken X chromosome derived from an incontinentia pigmenti patient carrying an X;9 translocation [46,XX,t(X;9)(p11.21;q34)]. The following order for probes is proposed: pter - (DXS7, DXS146, DXS255) - IP1 - (DXS14, DXS90) - DXS106 - qter. The negative lod scores obtained exclude the possibility that in the families studied, the gene for IP is located in Xp11 or in the major part of the Xp arm.
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http://dx.doi.org/10.1007/BF01790098 | DOI Listing |
J Clin Med
January 2025
Department of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic variants could be responsible for Incontinentia Pigmenti (IP) in female carriers.
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Department of Dermatology and Venereology, Pondicherry Institute of Medical Sciences, Puducherry, India.
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Department of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.
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Genetics and Genome Biology Program, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.
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Emergency Medicine/Toxicology, Boston Children's Hospital, Boston, Massachusetts.
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