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Haploinsufficiency of <jats:italic>BMP4, OTX2<\/jats:italic> and possibly <jats:italic>SIX6<\/jats:italic> are thought to contribute to the phenotype. We present a three generation family with four individuals carrying a 2.79\u2009Mb microdeletion 14q22.1\u201322.2 encompassing <jats:italic>BMP4<\/jats:italic> but not <jats:italic>OTX2<\/jats:italic> nor <jats:italic>SIX6<\/jats:italic>. The highly variable manifestations in this family range from multiple congenital malformations with Robin sequence, microphthalmia, postaxial polydactyly, and developmental delay in the index patient to cleft uvula, growth delay, and mild developmental delay in her sister. The adults have a normal intelligence, postaxial polydactyly, and short stature or early cataract. Genotype\u2013phenotype correlations suggest that the severity of eye manifestations in 14q22 deletions are influenced by the size of the deletion, but the marked intrafamilial variability observed in this family, as well as in familial <jats:italic>BMP4<\/jats:italic> or <jats:italic>OTX2<\/jats:italic> intragenic mutations points to additional modifiers outside this region. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35353","type":"journal-article","created":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T15:21:51Z","timestamp":1336749711000},"page":"1381-1387","source":"Crossref","is-referenced-by-count":21,"title":["Variability in expression of a familial 2.79\u2009Mb microdeletion in chromosome14q22.1\u201322.2"],"prefix":"10.1002","volume":"158A","author":[{"given":"Aim\u00e9","family":"Lumaka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Van 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