Inherited macrocephaly-hamartoma syndromes

DiLiberti, John H.

doi:10.1002/(sici)1096-8628(19981002)79:4<284::aid-ajmg10>3.0.co;2-n

Cited by 48 publications

(23 citation statements)

References 43 publications

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“…Macrocephaly with normal ventricular size has been the most consistent finding in BRRS in several reviews [MorettiFerreira et al, 1989;Gorlin et al, 1992]. It is noteworthy that macrocephaly is usually present from birth and persists into adulthood [DiLiberti, 1998]. Motor delay or learning difficulties occur in most children diagnosed with BRRS [Gorlin et al, 1992].…”

Section: Discussionmentioning

confidence: 99%

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

Piccione

Fragapane

Antona

et al. 2013

American J of Med Genetics Pt A

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PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ‐line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan–Riley–Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, endometrial, and sometimes renal cancers. Thus, cancer surveillance is the cornerstone of PHTS patient management. Although a consensus cancer surveillance protocol has not been formally instituted, all PTEN mutation carriers should adopt the cancer surveillance strategies proposed for patients with Cowden syndrome. In addition, because gastrointestinal and vascular complications can be more severe in Bannayan–Riley–Ruvalcaba syndrome than in Cowden syndrome, patients with Bannayan–Riley–Ruvalcaba syndrome should be monitored from this point of view too. In this study, we report on two cases with Bannayan–Riley–Ruvalcaba phenotype that showed two different PTEN mutations. We also propose practice recommendations for management of PHTS patients. © 2013 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

Piccione

Fragapane

Antona

et al. 2013

American J of Med Genetics Pt A

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“…Well-characterized mutations in PTEN , which is a tumour suppressor gene, have been associated with megalencephaly 143 . Moreover, PTEN normally suppresses the PI3K–AKT pathway and thus inhibits cell survival and growth 144 .…”

Section: Expansion Of Nps and Megalencephalymentioning

confidence: 99%

Growth and folding of the mammalian cerebral cortex: from molecules to malformations

2014

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The size and extent of folding of the mammalian cerebral cortex are important factors that influence a species’ cognitive abilities and sensorimotor skills. Studies in various animal models and in humans have provided insight into the mechanisms that regulate cortical growth and folding. Both protein-coding genes and microRNAs control cortical size, and recent progress in characterizing basal progenitor cells and the genes that regulate their proliferation has contributed to our understanding of cortical folding. Neurological disorders linked to disruptions in cortical growth and folding have been associated with novel neurogenetic mechanisms and aberrant signalling pathways, and these findings have changed concepts of brain evolution and may lead to new medical treatments for certain disorders.

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“…43 44 There is continued debate as to whether all described PTENrelated syndromes are in fact one entity 45 and should therefore receive equal attention with respect to cancer surveillance. [46][47][48][49] In this paper, we present the findings of our clinical study pertinent to this debate and attempt to provide clarification.…”

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confidence: 99%

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

Lachlan

Lucassen

Bunyan

et al. 2007

Journal of Medical Genetics

176

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Inherited macrocephaly-hamartoma syndromes

Cited by 48 publications

References 43 publications

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol

Growth and folding of the mammalian cerebral cortex: from molecules to malformations

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers

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