megalencephaly/phosphatase

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Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

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PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS).

Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome: A Case Report

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Introduction: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) may manifest as one of four distinctive disorders: 1) Cowden syndrome; 2) Bannayan-Riley-Ruvalcaba syndrome; 3) Proteus syndrome; or 4) Proteus-like

Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy.

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Phosphatase and tensin homolog (PTEN) gene mutations are associated with a spectrum of clinical disorders characterized by skin lesions, macrocephaly, hamartomatous overgrowth of tissues, and an increased risk of cancers. Autism has rarely been described in association with these variable clinical

Inherited macrocephaly-hamartoma syndromes.

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Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity.

The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors.

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PTEN/MMACI/TEP1, a tumor suppressor gene located on 10q23.3, encodes an almost ubiquitously expressed dual-specificity phosphatase. Germline mutations in PTEN have been found in the majority of cases of sporadic and familial Cowden syndrome (CS), an autosomal dominant inherited cancer syndrome

Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy.

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Phosphatase and tensin homologue deleted in chromosome 10 (PTEN) has dual protein and lipid phosphatase activity, and its tumor suppressor activity is dependent on its lipid phosphatase activity, which negatively regulates the phosphatidylinositol 3-kinase/Akt pathway. Mutations in PTEN have been

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.

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Phosphatase and tensin homolog (PTEN) plays an important role in tumor suppression. A germline mutation in the PTEN gene induces not only PTEN hamartoma tumor syndrome, including Cowden syndrome, but also macrocephaly/autism syndrome. Here, we describe a boy with macrocephaly/autism syndrome

Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities.

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The phosphatidylinositol 3-kinase (PI3K) signaling pathway modulates growth, proliferation and cell survival in diverse tissue types and plays specialized roles in the nervous system including influences on neuronal polarity, dendritic branching and synaptic plasticity. The tumor-suppressor

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

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Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway.

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The hedgehog (Hh) pathway is highly conserved and required for embryonic patterning and determination. Mutations in the Hh pathway are observed in sporadic tumors as well as under syndromic conditions. Common to these syndromes are the findings of polydactyly/syndactyly and brain overgrowth. The

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

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Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by autism associated with

Macrocephaly as a clinical indicator of genetic subtypes in autism.

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An association between autism and macrocephaly has been previously described. A subset of cases with extreme macrocephaly (>3 standard deviation [SD], 99.7th percentile) have been correlated to mutations in the gene phosphatase and tensin homolog (PTEN). However, the phenotypic and genetic

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

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Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia,

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.

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Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that occurs due to either increased number or size of neurons and glial cells. The former may be due to either increased neuronal proliferation or decreased apoptosis. The degree of brain overgrowth may be extensive,

Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome.

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Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the

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