Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: Insights into malformations of the mid-hindbrain

Seminars in Pediatric Neurology

Volumn 17, Issue 1, 2010, Pages 69-74

  Macferran, Kimberly M ^a   Buchmann, Robert F ^a   Ramakrishnaiah, Raghu ^a   Griebel, May L ^a   Sanger, Warren G ^b   Saronwala, Anirudh ^a   Schaefer, G Bradley ^a  

^a UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; NEPHROCYSTIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BEHAVIOR DISORDER; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; GENETIC ASSOCIATION; HUMAN; JOUBERT SYNDROME; MALE; MEDICAL HISTORY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PONTINE TEGMENTAL CAP DYSPLASIA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; BRAIN DISEASES; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; DEVELOPMENTAL DISABILITIES; HUMANS; HYPERPLASIA; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; NEUROLOGIC EXAMINATION; NEUROSURGERY; PONS;

EID: 77952502226     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2010.02.014     Document Type: Article

References (6)

1. Barth P.G., Majoie C.B., Caan M.W., et al. Pontine tegmental cap dysplasia: A novel brain malformation with a defect in axonal guidance. Brain 2007, 130:2258-2266.
2. Rauscher C., Poretti A., Neuhann T.M., et al. Pontine tegmental cap dysplasia: The severe end of the clinical spectrum. Neuropediatrics 2009, 40:43-46.
3. Jissendi-Tchofo P., Doherty D., McGillivray G., et al. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol 2009, 30:113-119.
4. Parisi M.A., Dobyns W.B. Human malformations of the midbrain and hindbrain: Review and proposed classification scheme. Mol Genet Metab 2003, 80:36-53.
5. Gleeson J.G., Keeler L.C., Parisi M.A., et al. Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet A 2004, 125A:125-134.
6. Castori M., Valente E.M., Donati M.A., et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005, 42:e9.