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

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1277-1279

  Zechi Ceide, Roseli Maria ^a   Ribeiro, Lucilene Arilho ^a   Raskin, Salmo ^b   Bertolacini, Claudia Danielli Pereira ^a   Guion Almeida, Maria Leine ^a   Richieri Costa, Antonio ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Curitiba City Hall   (Brazil)

Author keywords

Causative genes; Cleft lip palate; Ectrodactyly; Holoprosencephaly

Indexed keywords

HOMEODOMAIN PROTEIN; OXIDOREDUCTASE; PROTEIN DHCR7; PROTEIN TGIF; PROTEIN TP73L; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI2; TRANSCRIPTION FACTOR SIX3; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CLEFT LIP PALATE; CLINICAL EXAMINATION; CLINICAL FEATURE; ECTRODACTYLY; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; BRAZIL; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; EYE PROTEINS; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; REPRESSOR PROTEINS; SEVERITY OF ILLNESS INDEX; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEINS;

EID: 66349083855     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32844     Document Type: Article

References (13)

1. Abdel-Meguid N, Ashour AM. 2001. Holoprosencephaly and split hand/foot: An additional case with this rare association. Clin Dysmorphol 10:277-279. (Pubitemid 32948318)
2. Babbs C, Heller R, Everman DB, Crocker M, Twigg SRF, Schwartz CE, Giele H, Wilkie AOM. 2007. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Hum Genet 122:191-199. (Pubitemid 47241784)
3. Corona-Rivera A, Corona-Rivera JR, Bobadilla-Morales L, Garcia-Cobian TA, Corona-Rivera E. 2000. Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4)(q14.2;q35). Am J Med Genet 90:423-426. (Pubitemid 30080641)
4. Hartsfield JK, Bixler D, DeMyer WE. 1984. Syndrome identification case report 119. Hypertelorism associated with holoprosencephaly and ectrodactyly. Clin Dysmorphol 2:27-31.
5. Imaizumi K, Ishii T, Masuno M, Kuroki Y. 1998. Association of holoprosencephaly, ectrodactyly, cleft lip/palate and hypertelorism: A possible third case. Clin Dysmorphol 7:213-216. (Pubitemid 28317451)
6. König R, Beeg T, Tariverdian G, Scheffer H, Bitter K. 2003. Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: Another case and follow up. Clin Dysmorphol 12:221-225. (Pubitemid 37267184)
7. OMIM. 2008. Online Mendelian Inheritance in Man, McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and the National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
8. Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC. 2006. GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum? Am J Med Genet Part A 140A:2571-2576.
9. Ribeiro L, El-Jaick K, Muenke M, Richieri-Costa A. 2004. SIX3 and TGIF in holoprosencephaly - Mutations, phenotypes, and imaging. How different are they? 54th Annual Meeting of the American Society of Human Genetics, Abstract # 400.
10. Richieri-Costa A, Ribeiro LA. 2006. Holoprosencephaly-like phenotype: Clinical and genetic perspectives. Am J Med Genet Part A 140A:2587-2593.
11. Roessler E, Du Y-Z, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M. 2003. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Nat Acad Sci 100:13424-13429.
12. Van Maldergem L, Gillerot Y, Vamos E, Toppet M, Watillon P, Van Vliet G. 1992. Vasopression and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome. Acta Paediatr 81:365-367.
13. Young ID, Zuccollo JM, Barrow M, Fowlie A. 1992. Holoprosencephaly, telecanthus and ectrodactyly: A second case. Clin Dysmorphol 1:47-51.