CLINICAL REPORT Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis, and Glomuvenous Malformations AssociatedWith a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

نویسندگان

  • Matthew G. Butler
  • Susan L. Dagenais
  • Jose L. Garcia-Perez
  • Pascal Brouillard
  • Miikka Vikkula
  • Peter Strouse
  • Jeffrey W. Innis
  • Thomas W. Glover
چکیده

Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis, and Glomuvenous Malformations AssociatedWith a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation Matthew G. Butler,* Susan L. Dagenais, Jose L. Garcia-Perez, Pascal Brouillard, Miikka Vikkula, Peter Strouse, Jeffrey W. Innis, and Thomas W. Glover Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan Department of Human DNA Variability, GENYO (Pfizer-University of Granada-Andalusian Government Center for Genomics and Oncological Research), Granada, Spain Department of Radiology, University of Michigan Medical School, Ann Arbor, Michigan Laboratory of Human Molecular Genetics, de Duve Institute, Universit e Catholique de Louvain, Brussels, Belgium

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منابع مشابه

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4--6-cM region in chromosome 1p21-22. We also identified linkage disequilibrium that allowed a narrowing of this VMGLOM locus to 1.48 Mb. Herein, we report the identificatio...

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Mutation analysis in Irish families with glomuvenous malformations.

BACKGROUND Glomuvenous malformations (GVMs) are rare bluish lesions that can affect the skin and mucosal surfaces. They represent defects in vasculogenesis. Lesions can occur sporadically or in an autosomal dominant mode of inheritance. Recent studies have shown that mutations in the glomulin gene (GLMN) on chromosome 1p21-22 are responsible for familial GVMs. OBJECTIVES To search for mutatio...

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Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.

OBJECTIVES To develop clinical criteria that permit clinical distinction between inherited glomuvenous malformation (GVM), known as glomangioma, and inherited cutaneomucosal venous malformation and to test these criteria on sporadic lesions. DESIGN Clinical data were compiled for 1685 patients with inherited or sporadic cutaneous venous anomalies. Based on a cohort of patients with a mutation...

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Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.

Mutations in the glomulin gene result in dominantly inherited vascular lesions of the skin known as glomuvenous malformations (GVMs). These lesions are histologically distinguished by their distended vein-like channels containing characteristic 'glomus cells', which appear to be incompletely or improperly differentiated vascular smooth muscle cells (VSMCs). The function of glomulin is currently...

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Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...

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تاریخ انتشار 2012