{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:55:26Z","timestamp":1791291326450,"version":"4.3.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T00:00:00Z","timestamp":1133827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a family with three stillborn males, three affected males who were small for gestational age and died within 8 months, and one male who died at age 5 years. This boy had cone\u2010shaped teeth and oligoodontia. He had serious bacterial infections and inflammatory bowel disease. Mutations in the NF\u2010\u03baB essential modulator (<jats:italic>NEMO<\/jats:italic>) gene have recently been shown to be the cause of a group of ectodermal dysplasia and immunodeficiency disorders (EDA\u2010ID). Analysis of the <jats:italic>NEMO<\/jats:italic> gene revealed a nucleotide change in the consensus sequence of the splicing donor site of exon 6 IVS6\u2009+\u20095G\u2009\u2192\u2009A(1027\u2009+\u20095G\u2009\u2192\u2009A), which has not previously been described in EDA\u2010ID. RT\u2010PCR analysis of fibroblast RNA from an aborted affected male fetus demonstrated a skipping of exons 4, 5, and 6 which resulted in a truncated protein of about 35 kDa revealed by NEMO antibody. The skipping of exons 4, 5, and 6 did not affect the ORF of the C\u2010terminal of NEMO encoded by exons 7, 8, 9, and 10, which contains a coiled\u2010coil motif (CC2), a leucin\u2010zipper (LZ), and a zinc finger motif (ZF) sub\u2010domains of NEMO. I\u03baB\u03b1 degradation was strongly impaired in the fetal fibroblasts, suggesting an impaired NF\u2010\u03baB signaling. One healthy carrier had a completely skewed X\u2010inactivation pattern with the normal X active, whereas the two other carriers had a random X\u2010inactivation pattern. This family may represent a new phenotype within the EDA\u2010ID disorders. From the heterogeneity in X\u2010inactivation phenotype, we conclude that this mutation is not deleterious enough to be lethal for peripheral blood cells. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31026","type":"journal-article","created":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T21:47:17Z","timestamp":1133905637000},"page":"31-39","source":"Crossref","is-referenced-by-count":50,"title":["Novel splicing mutation in the <i>NEMO<\/i> (<i>IKK\u2010gamma<\/i>) gene with severe immunodeficiency and heterogeneity of X\u2010chromosome inactivation"],"prefix":"10.1002","volume":"140A","author":[{"given":"Karen Helene","family":"\u00d8rstavik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Kristiansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gun 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