Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

Authors

  • Roseli Maria Zechi-Ceide,

    1. Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil
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  • Lucilene Arilho Ribeiro,

    1. Molecular Laboratory, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, São Paulo, SP, Brazil
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  • Salmo Raskin,

    1. Counseling Center and Genetics Laboratory, Curitiba, PR, Brazil
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  • Claudia Danielli Pereira Bertolacini,

    1. Molecular Laboratory, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, São Paulo, SP, Brazil
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  • Maria Leine Guion-Almeida,

    1. Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil
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  • Antonio Richieri-Costa

    Corresponding author
    1. Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil
    • HRAC-USP, Rua Silvio Marchione 3-20, CEP 17012-900, Bauru, SP, Brazil.
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  • How to cite this article: Zechi-Ceide RM, Ribeiro LA, Raskin S, Pereira Bertolacini CD, Guion-Almeida ML, Richieri-Costa A. 2009. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. Am J Med Genet Part A 149A:1277–1279.

Abstract

We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft of lip and palate, and severe mental retardation. The karyotype was normal and the screening for mutations in the genes SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed. © 2009 Wiley-Liss, Inc.

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