Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

摘要

The development of the lip and palate in uteri involves a precisely orchestrated series of events that involve cell migration, growth, adhesion, differentiation, and apoptosis. Disruption of these processes may result in orofacial clefting which occurs in approximately one in 500 infants at birth, and may be either syndromic or isolated (Muenke, 2002). The most common cause of syndromic orofacial clefts is the Van der Woude syndrome (VWS), a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (VWS, OMIM #119300). The popliteal pterygium syndrome (PPS, OMIM #119500) shares the clinical features of VWS with the addition of popliteal webs (pterygia), synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon), syndactyly or absence of fingers or toes, hypoplastic toenails, or genital anomalies (Kondo et al., 2002).