Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain.
The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegmental cap dysplasia. Chromosomal microarray studies showed a 2q13 deletion. A gene associated with Joubert syndrome, NPHP1, is within this region. This case highlights several important aspects of the diagnosis and nosology of malformations of the mid-hind brain.
Macferran
Kimberly M
KM
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Buchmann
Robert F
RF
Ramakrishnaiah
Raghu
R
Griebel
May L
ML
Sanger
Warren G
WG
Saronwala
Anirudh
A
Schaefer
G Bradley
GB
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D001927:Brain Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D006965:Hyperplasia / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009460:Neurologic Examination; D009493:Neurosurgery / Q000379:methods; D011149:Pons / Q000002:abnormalities / Q000473:pathology* / Q000601:surgery
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human