The 2011 annual meeting of the Children's Tumor Foundation, the annual gathering of the neurofibromatosis (NF) research and clinical communities, was attended by 330 participants who discussed integration of new signaling pathways into NF research, the appreciation for NF mutations in sporadic cancers, and an expanding pre-clinical and clinical agenda. NF1, NF2, and schwannomatosis collectively affect approximately 100,000 persons in US, and result from mutations in different genes. Benign tumors of NF1 (neurofibroma and optic pathway glioma) and NF2 (schwannoma, ependymoma, and meningioma) and schwannomatosis (schwannoma) can cause significant morbidity, and there are no proven drug treatments for any form of NF. Each disorder is associated with additional manifestations causing morbidity. The research presentations described in this review covered basic science, preclinical testing, and results from clinical trials, and demonstrate the remarkable strides being taken toward understanding of and progress toward treatments for these disorders based on the close interaction among scientists and clinicians.
From analysis of DNA polymorphisms in a panel of 455 subjects from 25 families with facioscapulohumeral (Landouzy-Déjérine) disease, we have found no evidence for close linkage of the disease at 24 different genetic loci, including one from a candidate chromosomal region. Added to previous data, our results provide direction for future collaborative linkage studies.
SUMMARY FromanalysisofDNApolymorphismsin a panelof455subjectsfrom25familieswithfacioscapulohumeral(Landouzy-Dejerine) disease, we havefound no evidenceforclose linkageofthe disease at 24 different genetic loci, including one from a candidate chromosomal region.Added to previous data, our results provide direction for future collaborative linkage studies. Facioscapulohumeral (Landouzy-Dejerine) disease(FSHD),with a prevalenceestimated at 5/100 0o0,1 2 is arguably one of the more common inheritedneuromusculardisorders. Clinical onset is usually inchildhood with facial weakness, but first sympto- maticpresentationwith shoulder girdle weaknessisoften delayed until the teens, early adulthood, or later.3 Progressionofweakness occurs, especially in the proximal muscles ofthe upper limbs, but often alsoinvolvestruncal,peroneal,and/or more proximallower limb muscles, so that up to 20% of FSHDheterozygotes require a wheelchair by middle age.4 ThequestionofwhetherLandouzy-Dejerine disease Received for publication 9 March 1989.Accepted for publication 31 March 1989.
A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted genes and therefore be associated with UPD. Using 112 dinucleotide repeat DNA polymorphisms, we have examined parental inheritance of all autosome pairs, except chromosome 15, in 29 patients with Sotos syndrome. All informative cases showed biparental inheritance and no cases of UPD were found. We conclude that Sotos syndrome is either not caused by an imprinted gene or that UPD is rare or of a segmental form in its aetiology.
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