Ana Fernández‐Marmiesse

Complejo Hospitalario Universitario de Santiago

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

María L. Couce

Complejo Hospitalario Universitario de Santiago

Iria Roca

Universidade de Santiago de Compostela

José M. Fraga

Universidade de Santiago de Compostela

Daisy Castiñeiras

Instituto de Investigación Sanitaria de Santiago

Luis Aldámiz‐Echevarría

Instituto de Investigación Sanitaria de Santiago

ÃC

Ãngel Carracedo

Universidade de Santiago de Compostela

Isidro Vitoria

Hospital Universitari i Politècnic La Fe

Sofía Gouveia

Instituto de Investigación Sanitaria de Santiago

M. Dolores Bóveda

Universidade de Santiago de Compostela

Cristina Jou

Hospital Sant Joan de Déu Barcelona

Cooperative Institutions

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red

Universidade de Santiago de Compostela

Complejo Hospitalario Universitario de Santiago

Instituto de Investigación de Enfermedades Raras

Hospital Sant Joan de Déu Barcelona

Instituto de Investigación Sanitaria de Santiago

Universitat de Barcelona

Institut de Recerca Sant Joan de Déu

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Estudio PET-TC con 18 F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave

Anales de Pediatría (2008)

Javier Arbizu Lostao Ana Fernández‐Marmiesse P. Garrastachu Zumarrán E. Martino Casado Cristina Azcona

10.1157/13120046

Cite

Citations (7)

Vitamin and mineral status in patients with hyperphenylalaninemia

Molecular Genetics and Metabolism (2015)

Vanesa Crujeiras Martínez Luis Aldámiz‐Echevarría Jaime Dalmau Isidro Vitoria Fernando Andrade

Hyperphenylalaninemia

10.1016/j.ymgme.2015.06.010

Cite

Citations (50)

PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

Genomics (2019)

Iria Roca Lorena González-Castro Joan Maynou Lourdes Palacios Helena Fernández-López

Zygosity

10.1016/j.ygeno.2019.07.011

Cite

Citations (9)

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Orphanet Journal of Rare Diseases (2016)

María L. Couce Isidro Vitoria Luis Aldámiz‐Echevarría Ana Fernández‐Marmiesse Iria Roca

The mainstay of treating patients with phenylketonuria (PKU) is based on a Phe-restricted diet, restrictive in natural protein combined with Phe-free L-amino acid supplements and low protein foods. This PKU diet seems to reduce atherogenesis and confer protection against cardiovascular diseases but the results from the few published studies have been inconclusive. The aim of our study was to evaluate the relationship between the lipid profile and several treatment-related risk factors in patients with hyperphenylalaninaemia (HPA) in order to optimize their monitoring. We conducted a cross-sectional multicentre study. A total of 141 patients with HPA were classified according to age, phenotype, type of treatment and dietary adherence. Annual median blood phenylalanine (Phe) levels, Phe tolerance, anthropometric measurements, blood pressure (BP) and biochemical parameters [(triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), apolipoprotein A (ApoA), apolipoprotein B (ApoB), vitamin B12, total homocysteine (tHcy), Methionine (Met), high sensitivity C-Reactive Protein (hsCRP)] were collected for each patient. Plasma TC levels were lower in patients with PKU than in the mild-HPA group (150 ± 31 vs. 164 ± 22 mg/dL), and there was a weak inverse correlation between plasma TC and Phe levels. HDL-C, LDL-C, ApoA and ApoB levels were lower in the PKU group than in mild-HPA. Patients with PKU had higher systolic BP than the mild-HPA group and there was found a quadratic correlation between median Phe levels and systolic BP (p = 6.42e-5) and a linear correlation between median Phe levels and diastolic BP (p = 5.65e-4). In overweight or obese PKU patients (24.11 %), biochemical parameters such as TC, triglycerides, LDL-C, tHcy, hsCRP and BP were higher. By contrast, HDL-C was lower in these patients. Our data show a direct correlation between lipid profile parameters and good adherence to the diet in PKU patients. However, lipid profile in overweight or obese patients displayed an atherogenic profile, in addition to higher hsCRP concentrations and BP. Our study contributes to a better understanding of the relationship between phenotype and treatment in patients with HPA, which could be useful in improving follow-up strategies and clinical outcome. Research Ethics Committee of Santiago-Lugo 2015/393. Registered 22 September 2015, retrospectively registered.

Lipid Profile

10.1186/s13023-016-0508-x

Cite

Citations (30)

HiperCKemia paucisintomática secundaria a mutación en el gen ANO5

Neurología (2019)

Cristian Alcahut-Rodríguez I. Díaz-Maroto Ana Fernández‐Marmiesse Jorge García‐García

10.1016/j.nrl.2018.10.007

Cite

Citations (1)

Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

Endocrine (2016)

Cristina Guillín‐Amarelle Sofía Sánchez‐Iglesias Ana Castro-Pais Leticia Rodríguez‐Cañete Lucía Ordóñez Mayán

Lipodystrophy

10.1007/s12020-016-1002-x

Cite

Citations (55)

Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

Neuromuscular Disorders (2016)

Carlos Pablo de Fuenmayor‐Fernández de la Hoz Aurelio Hernández‐Laín Montse Olivé Ana Fernández‐Marmiesse Cristina Domínguez‐González

Proximal muscle weakness

Muscle contracture

Muscle weakness

10.1016/j.nmd.2016.07.003

Cite

Citations (20)

Congenital hyperinsulinism in two siblings due to the same ABCC8 mutation: the clinical importance of an early diagnosis and treatment

Endocrine Abstracts (2017)

Francisco Sousa Santos Hélder Simões Lidia Castro-Feijóo Paloma Cabanas Rodríguez Ana Fernández‐Marmiesse

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Congenital hyperinsulinism

10.1530/endoabs.49.ep725

Cite

Citations (0)

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

International Journal of Molecular Sciences (2018)

Iria Roca Ana Fernández‐Marmiesse Sofía Gouveia Marta Segovia María L. Couce

The biggest challenge geneticists face when applying next-generation sequencing technology to the diagnosis of rare diseases is determining which rare variants, from the dozens or hundreds detected, are potentially implicated in the patient’s phenotype. Thus, variant prioritization is an essential step in the process of rare disease diagnosis. In addition to conducting the usual in-silico analyses to predict variant pathogenicity (based on nucleotide/amino-acid conservation and the differences between the physicochemical features of the amino-acid change), three important concepts should be borne in mind. The first is the “mutation tolerance” of the genes in which variants are located. This describes the susceptibility of a given gene to any functional mutation and depends on the strength of purifying selection acting against it. The second is the “mutational architecture” of each gene. This describes the type and location of mutations previously identified in the gene, and their association with different phenotypes or degrees of severity. The third is the mode of inheritance (inherited vs. de novo) of the variants detected. Here, we discuss the importance of each of these concepts for variant prioritization in the diagnosis of rare diseases. Using real data, we show how genes, rather than variants, can be prioritized by calculating a gene-specific mutation tolerance score. We also illustrate the influence of mutational architecture on variant prioritization using five paradigmatic examples. Finally, we discuss the importance of familial variant analysis as final step in variant prioritization.

Genetic architecture

Prioritization

Inheritance

10.3390/ijms19061584

Cite

Citations (21)

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Frontiers in Genetics (2015)

Sara Brito Kyle Thompson Jaume Campistol J. Colomer Steven Hardy

[This corrects the article on p. 102 in vol. 6, PMID: 25852744.].

10.3389/fgene.2015.00254

Cite

Citations (4)