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Our group has identified a hemizygous <jats:italic>EBP<\/jats:italic> mutation in males with a phenotype remarkable for Dandy\u2010Walker malformation, cataracts, collodion skin and cryptorchidism. Additional findings of hydrocephalus, dysplasia of the corpus callosum, cardiovascular, craniofacial and skeletal anomalies were regularly seen in affected males and the family histories were supportive of an X\u2010linked \u2010recessive condition. The regularly reproducible constellation of cardinal features aligns very nicely with other disorders of sterol biosynthesis and is further distinguished by an absence of arty clinical manifestations in obligate carrier females. Biochemical analysis of blood from cases demonstrated markedly increased levels of 8(9)\u2010cholestenol, and 8\u2010dehydroeholesterol and a mildly increased level of 7\u2010dehydrocholesterol; a similar pattern to what is seen in CDPX2. Sequence analysis of EJJP revealed a novel hemizygous missense mutation at position 141, predictive of a tryptophan to cysteine substitution (c.141G&gt;T, p.W47C). The unaffected mothers were heterozygous for the c.141G&gt;T mutation arid showed random X\u2010inactivation pattern upon. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33674","type":"journal-article","created":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T16:32:21Z","timestamp":1287073941000},"page":"2838-2844","source":"Crossref","is-referenced-by-count":32,"title":["A novel X\u2010linked multiple congenital anomaly syndrome associated with an <i>EBP<\/i> mutation"],"prefix":"10.1002","volume":"152A","author":[{"given":"Larissa 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