Katelin N. Townsend

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

My Linh Thibodeau, Colin H. Peters, Katelin N. Townsend, Yaoqing Shen et autres

TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygous siblings presenting with a complex phenotype …

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna Lehman, Samrat Thouta, Grazia M. S. Mancini, Sakkubai Naidu et autres

ca, nl, us (code pays fourni par la source)

Acetazolamide-responsive episodic ataxia associated with a de novo SCN2A mutation

Emma Leach, Clara van Karnebeek, Katelin N. Townsend, Maja Tarailo‐Graovac et autres

Introduction: Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia interspersed by asymptomatic periods. Dominant mutations or copy number variants in CACNA1A are a well-known cause of EA2. Clinical presentation: This boy presented clinical features of EA2, and also …

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Stephanie C. Bourne, Katelin N. Townsend, Casper Shyr, Allison Matthews et autres

We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity …

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Episodic ataxia associated with a de novo SCN2A mutation

Emma Leach, Clara van Karnebeek, Katelin N. Townsend, Maja Tarailo‐Graovac et autres

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Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Ana S.A. Cohen, Damian Yap, M. E. Suzanne Lewis, Chieko Chijiwa et autres

Weaver syndrome (WS) is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, intellectual disability, and susceptibility to cancers. De novo mutations in the enhancer of zeste homolog 2 (EZH2) have been shown to cause WS. …

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MG-116 Determining a genetic cause for familial intracranial aneurysms

E. Hitchcock, Jillian Diamond, Katelin N. Townsend, Brian K. Chung et autres

Intracranial berry aneurysms (IA) can develop in arterial walls where the endothelial layer has weakened. Subarachnoid haemorrhage (SAH) occurs when an IA bursts causing blood to flow into the brain space. SAH leads to death in 35–50% of patients, and to brain …

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Survival of Effector CD8+ T Cells during Influenza Infection Is Dependent on Autophagy

Katrin Schlie, Ashley Westerback, Lindsay DeVorkin, Luke R. K. Hughson et autres

The activation and expansion of effector CD8(+) T cells are essential for controlling viral infections and tumor surveillance. During an immune response, T cells encounter extrinsic and intrinsic factors, including oxidative stress, nutrient availability, and inflammation, that can modulate their capacity to …

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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Ana S.A. Cohen, Katelin N. Townsend, Qing‐San Xiang, Rajpaul Attariwala et autres

We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was …

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Tumor vascularity in ovarian cancer

David S. Neilson, Sarah MacPherson, Katelin N. Townsend, Julian J. Lum

Tumor-infiltrating lymphocytes (TILs) are crucial for effective antitumor responses. However, hypoxia can skew T-cell differentiation and function, thereby perturbing TILs. We have demonstrated that TILs and their immune function are associated with tumor vascularization. These features are prognostic for improved disease-specific survival …

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Markers of T Cell Infiltration and Function Associate with Favorable Outcome in Vascularized High-Grade Serous Ovarian Carcinoma

Katelin N. Townsend, Jaeline E. Spowart, Hassan Huwait, Sima Eshragh et autres

BACKGROUND: When T cells infiltrate the tumor environment they encounter a myriad of metabolic stressors including hypoxia. Overcoming the limitations imposed by an inadequate tumor vasculature that contributes to these stressors may be a crucial step to immune cells mounting an effective …

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Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

Isabel Filges, Ekaterina Nosova, Elisabeth Bruder, Sevgi Tercanli et autres

Gene discovery using massively parallel sequencing has focused on phenotypes diagnosed postnatally such as well-characterized syndromes or intellectual disability, but is rarely reported for fetal disorders. We used family-based whole-exome sequencing in order to identify causal variants for a recurrent pattern of …

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