Artigo
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
Fecha
2007-07-01Registro en:
Clinical Dysmorphology. Philadelphia: Lippincott Williams & Wilkins, v. 16, n. 3, p. 163-166, 2007.
0962-8827
10.1097/MCD.0b013e3280739753
WOS:000247674300005
Autor
Universidade de São Paulo (USP)
Universidade Estadual Paulista (Unesp)
Resumen
In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.