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

• Published in: American journal of medical genetics. Part A Vol. 149A; no. 6; pp. 1277 - 1279
• Main Authors: Zechi‐Ceide, Roseli Maria, Ribeiro, Lucilene Arilho, Raskin, Salmo, Bertolacini, Claudia Danielli Pereira, Guion‐Almeida, Maria Leine, Richieri‐Costa, Antonio
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.06.2009; Wiley-Liss
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Brazil; causative genes; Child, Preschool; Cleft Lip - genetics; cleft lip‐palate; Cleft Palate - genetics; ectrodactyly; Eye Proteins - genetics; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Hand Deformities, Congenital - genetics; Hedgehog Proteins - genetics; holoprosencephaly; Holoprosencephaly - genetics; Homeobox Protein SIX3; Homeodomain Proteins - genetics; Humans; Intellectual Disability - genetics; Kruppel-Like Transcription Factors - genetics; Male; Malformations of the nervous system; Medical genetics; Medical sciences; Nerve Tissue Proteins - genetics; Neurology; Non tumoral diseases; Nuclear Proteins - genetics; Otorhinolaryngology. Stomatology; Oxidoreductases Acting on CH-CH Group Donors - genetics; Repressor Proteins - genetics; Severity of Illness Index; Trans-Activators - genetics; Transcription Factors; Tumor Suppressor Proteins - genetics; Zinc Finger Protein Gli2; Arhinencephaly; Nervous system diseases; Cleft palate; Cleft lip; Stomatology; Pathogenesis; Diseases of the osteoarticular system; Bilateral; Congenital cleft; holoprosencephaly; Congenital disease; Genetic determinism; causative genes; Cerebral disorder; Ectrodactyly; cleft lip-palate; Gene; Malformation; Central nervous system disease; Oral cavity disease; ectroclactyly
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32844

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.