Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.

Ichikawa, Kazushi; Crosley, Carl J.; Culebras, Antonio; Weitkamp, Lowell R.

doi:10.1136/jmg.18.2.134

Cited by 28 publications

(11 citation statements)

References 3 publications

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“…Multiple pilomatrixomas, very rare in the general population, have been described in dystrophic individuals and in their otherwise asymptomatic relatives (Harper 1971;Chiaramonti and Gilgor 1978;Street and Rogers 1991;Kopeloff et al 1992). Myotonic dystrophy patients have also been described with neuroendocrine tumors of neural crest origin (Reimund et al 1992) including neurofibromatosis (Kissel and Amould 1954;Ichikawa et al 1981;Rosenberg et al 1988), multiple endocrine adenomatosis type 2A (Rosenberg et al 1988), parathyroid adenomas (Harada et al 1987), and multiple carcinoid tumors of the small bowel (Reimund et al 1992). Our results raise the possibility that somatic loss of heterozygosity of the DM kinase gene might contribute to the development of these tumors.…”

Section: Genes and Developmentmentioning

confidence: 63%

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation.

Justice

Zilian²,

Woods³

et al. 1995

Genes Dev.

818

626

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Homozygous loss of the warts (wts) gene of Drosophila, caused by mitotic recombination in somatic cells, leads to the formation of cell clones that are fragmented, rounded, and greatly overgrown compared with normal controls. Therefore, the gene is required for the control of the amount and direction of cell proliferation as well as for normal morphogenesis. The absence of wts function also results in apical hypertrophy of imaginal disc epithelial cells. Secretion of cuticle over and between the domed apical surfaces of these cells leads to a honeycomb-like structure and gives the superficial wart-like phenotype of mitotic clones on the adult. One wts allele allows survival of homozygotes to the late larval stage, and these larvae show extensive imaginal disc overgrowth. Because of the excess growth and abnormalities of differentiation that follow homozygous loss, we consider wts to be a tumor suppressor gene. The wts gene is defined by the breakpoints of overlapping deficiencies in the right telomeric region of chromosome 3, region 100A, and by lethal P-element insertions and excisions. It encodes a protein kinase that is most similar to human myotonic dystrophy kinase, the Neurospora cot-1 protein kinase, two cell-cycle regulated kinases of yeast, and several putative kinases from plants. These proteins define a new subfamily of protein kinases that are closely related to but distinct from the cyclic AMP-dependent kinases. Although myotonic dystrophy is defined by a neuromuscular disorder, it is sometimes associated with multiple pilomatrixomas, which are otherwise rare epithelial tumors, and with other tumors including neurofibromas and parathyroid adenomas. Our results raise the possibility that homozygous loss of the myotonic dystrophy kinase may contribute to the development of these tumors.[Key Words: Tumor suppressor genes; myotonic dystrophy; epithelia; protein kinases; Drosophila] Received November 24, 19941 revised version accepted January 27, 1995.The origin and progression of human tumors involves a series of genetic changes including the activation of oncogenes and the loss or inactivation of tumor suppressor genes (Schmandt and Mills 19931. The importance of tumor suppressor genes is now well recognized with the molecular identification of many of them and the demonstration of normal allele loss in many types of tumors (Knudson 1993). The products of tumor suppressor genes include cell adhesion proteins, signal transduction molecules, transcription factors, and molecules involved in the control of the cell cycle and of apoptotic cell death (Knudson 1993). 3This work resulted from an equal contribution by these authors.

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Section: Genes and Developmentmentioning

confidence: 63%

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation.

Justice

Zilian²,

Woods³

et al. 1995

Genes Dev.

818

626

View full text Add to dashboard Cite

show abstract

“…Among the tumors described are pilomatrixoma, 7 parathyroid adenoma, 7 small bowel carcinoma, 7 neurofibromatosis, 8,19 thymoma, 15 pleomorphic adenoma of the parotid gland, 10 pituitary adenoma, 1 ovarian cancer, 12 and ovarian cyst. 12 To our knowledge, the coincidence of laryngeal cancer and DM has not previously been reported.…”

Section: Discussionmentioning

confidence: 97%

CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy

et al. 2000

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“…Data for linkage of myotonic dystrophy (DM) and neurofibromatosis (NFl) originally reported by Ichikawa (1981) was presented by Pericak-Vance et al (1984) (z = 2.1 at 9 = 0 (males and females)). An independent family with DM and NFl was reported by Rivas and DiLiberti (1984) (z = 2.4 at 9 = 0 (males and females)).…”

mentioning

confidence: 99%

Report of the committee on the genetic constitution of chromosomes 18, 19, 20, 21, and 22

Westerveld¹,

Naylor²

1984

Cytogenet Genome Res

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Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.

Abstract: We report a kindred with subjects with both NF and MD. This family is unusual not only for the rare coincidence of the two diseases, but also because both NF and MD occurred in seven of nine persons affected with either disorder.

Cited by 28 publications

References 3 publications

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation.

The Drosophila tumor suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation.

CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy

Report of the committee on the genetic constitution of chromosomes 18, 19, 20, 21, and 22

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