PubMed · 11343325
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W Wuyts, W Van Hul, O Bartsch, A O Wilkie, P Meinecke. 2001-05-15. Burning down DEFECT11.. https://doi.org/10.1002/ajmg.1267
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Thrombopoietin gene expression in the human adult central nervous system (CNS) appears to be locally restricted. The aim of this study was to identify areas of thrombopoietin expression in the developing human CNS, and to compare the thrombopoietin mRNA content in the CNS to that in liver and kidneys as major sites of thrombopoietin production. Thrombopoietin protein concentrations in the cerebrospinal fluid (CSF) were measured by ELISA. In 14 fetuses and neonates with perinatal death, thrombopoietin mRNA expression was measured by competitive RT-PCR. Thrombopoietin mRNA was expressed in 29 of 32 specimens taken from the CNS. The following ranking of the intensity of expression in the CNS was possible: Spinal cord=cerebellum=cortex>>pituitary gland>>>brain stem=corpora amygdala=hippocampus. Whereas in the latter three tissues only trace amounts of thrombopoietin transcripts were detectable, thrombopoietin mRNA levels in the spinal cord were comparable to levels in liver and kidney. Thrombopoietin protein concentrations in CSF ranged between 41 and 75 pg/ml. In the developing human CNS, the thrombopoietin gene is abundantly expressed. Considering that thrombopoietin contains a neurotrophic sequence, it may well play a role in neuronal cell biology.
We report on a 12-year-old boy who presented with delayed development and CNS dysmyelination. Genetic studies showed a normal 46,XY karyotype by routine cytogenetic analysis, and 46,XY.ish del(18)(q23)(D18Z1+, MBP-) by FISH using a locus-specific probe for the MBP gene (18q23). Though the patient appeared to have normal chromosome 18s by repeated high resolution banding analysis, his clinical features were suggestive of a deletion of 18q. These included hearing loss secondary to stenosis of the external auditory canals, abnormal facial features, and foot deformities. FISH studies with genomic probes from 18q22.3 to 18qter confirmed a cryptic deletion which encompassed the MBP gene. In an attempt to further characterize the deletion, whole genome screening was conducted using array based comparative genomic hybridization (array CGH) analysis. The array CGH data not only confirmed a cryptic deletion in the 18q22.3 to 18qter region of approximately 7 Mb, it also showed a previously undetected 3.7 Mb gain of 4q material. FISH studies demonstrated that the gained 4q material was translocated distal to the 18qter deletion breakpoint. The 18q deletion contains, in addition to MBP, other known genes including CYB5, ZNF236, GALR1, and NFATC1, while the gained 4q material includes the genes FACL1 and 2, KLKB1, F11 and MTNR1A. The use of these combined methodologies has resulted in the first reported case in which array CGH has been used to characterize a congenital chromosomal abnormality, highlighting the need for innovative molecular cytogenetic techniques in the diagnosis of patients with idiopathic neurological abnormalities.
INTRODUCTION: MR with ultrafast imaging techniques is, nowadays, a standard clinical service in most medical centers for prenatal counseling when sonographic examination is not conclusive or a complicated pregnancy is encountered. Compared with other imaging modalities, MR has multi-faceted superiorities in that it uses non-ionization radiation, it has freedom in selecting an imaging plane, it produces standardized and easily reproducible imaging views, it provides excellent tissue contrast and overview of the fetus, there is no scanning dead space, and no limit to penetration depth. Central nervous system anomalies are the most common indications for fetal MR imaging. TECHNICAL ASPECTS: Among the various ultrafast imaging techniques, T2-weighted imaging, e.g., spin echo-based half-Fourier acquisition single-shot turbo spin-echo and gradient echo-based steady-state free precession, and T1-weighted imaging, e.g., fast low angle shot and fast spoiled gradient recalled sequences, are commonly used. FUTURE: In the future, morphometry in three dimensions, real-time imaging, and the functional and metabolic evaluation of the fetal brain will be the important ongoing challenges.