2004
DOI: 10.1002/ajmg.a.30135
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ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation

Abstract: A 3-year-old girl with phenotypic and cytogenetic manifestations of the ICF syndrome and DNA hypomethylation but without DNMT3B gene mutation is described. At age 3 months, she had an apneic spell that left her with spastic paraplegia and severe mental retardation. At age 8 months, she suffered meningococcal meningitis and sepsis. When seen by us at age 3 years with virilization, she had a cleft plate, macroglossia, and an atrial septal defect. An adenoma was surgically removed from the right adrenal cortex. H… Show more

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Cited by 45 publications
(42 citation statements)
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“…Up to now, reports of malignancy in the ICF syndrome are limited to one ICF type 1 patient with myelodysplastic syndrome and one ICF type 2 patient with Hodgkin lymphoma [Schuetz et al, 2007;Hagleitner et al, 2008]. Another type 2 patient had an adrenocortical adenoma [Kubota et al, 2004]. When looking at possible predisposing factors in the ICF syndrome for malignancy, both the hypomethylation and chromosomal instability in the ICF syndrome could contribute to tumorigenesis.…”
Section: Discussionmentioning
confidence: 96%
“…Up to now, reports of malignancy in the ICF syndrome are limited to one ICF type 1 patient with myelodysplastic syndrome and one ICF type 2 patient with Hodgkin lymphoma [Schuetz et al, 2007;Hagleitner et al, 2008]. Another type 2 patient had an adrenocortical adenoma [Kubota et al, 2004]. When looking at possible predisposing factors in the ICF syndrome for malignancy, both the hypomethylation and chromosomal instability in the ICF syndrome could contribute to tumorigenesis.…”
Section: Discussionmentioning
confidence: 96%
“…Development of a benign tumor, an adrenocortical adenoma, was described in one patient only [Kubota et al, 2004], malignant tumors have as yet not been recognized.…”
Section: Introductionmentioning
confidence: 91%
“…Defect in a DNMT (e.g., DNMT3B) can causes an ICF syndrome that is characterized by Immunodeficiency, centromere instability, facial abnormalities, and mild mental retardation (Fig. 3A) (Okano et al, 1999;Shirohzu et al, 2002;Kubota et al, 2004).…”
Section: Dna Methylation-associated Protein Diseasesmentioning
confidence: 99%