Human Mutation

Cover image for Vol. 35 Issue 12

Early View (Online Version of Record published before inclusion in an issue)

Edited By: Richard G.H. Cotton and Garry R. Cutting

Impact Factor: 5.122

ISI Journal Citation Reports © Ranking: 2013: 25/165 (Genetics & Heredity)

Online ISSN: 1098-1004

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  1. 1 - 11
  1. Mutation Updates

    1. You have full text access to this OnlineOpen article
  2. Brief Report

    1. Disruption of the SEMA3D Gene in a Patient with Congenital Heart Defects

      Marta Sanchez-Castro, Olivier Pichon, Annaig Briand, Damien Poulain, Véronique Gournay, Albert David and Cédric Le Caignec

      Article first published online: 28 NOV 2014 | DOI: 10.1002/humu.22702

  3. Research Articles

    1. Whole-Exome Sequencing Identifies a Variant in TMEM132E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99

      Jiangxia Li, Xiaohan Zhao, Qian Xin, Shan Shan, Baichun Jiang, Yecheng Jin, Huijun Yuan, Pu Dai, Ruo Xiao, Qingyan Zhang, Jingjing Xiao, Changshun Shao, Yaoqin Gong and Qiji Liu

      Article first published online: 28 NOV 2014 | DOI: 10.1002/humu.22712

    2. MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

      Diana Zahnleiter, Nadine N. Hauer, Kristin Kessler, Steffen Uebe, Yuya Sugano, Stephan C.F. Neuhauss, Andreas Giessl, Arif B. Ekici, Holger Blessing, Heinrich Sticht, Helmuth-Günther Dörr, André Reis and Christian T. Thiel

      Article first published online: 28 NOV 2014 | DOI: 10.1002/humu.22711

    3. Novel SLC5A2 Variants Contribute to Renal Glucosuria in Chinese Families: Abnormal Expression and Dysfunction of Variant SLC5A2

      Lei Yu, Ping Hou, Ji-Cheng Lv, Guo-Ping Liu and Hong Zhang

      Article first published online: 28 NOV 2014 | DOI: 10.1002/humu.22714

      Thumbnail image of graphical abstract

      Variant SLC5A2 proteins had altered expression levels and expression patterns in addition to significantly lower glucose transport capacity upon reconstitution in cultured cells. Our study provides functions clues regarding the role of the SLC5A2 molecule in FRG families and provides useful clues for the study of anti-diabetes drugs.

  4. Reviews

    1. Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations

      Arunkanth Ankala, Parag M. Tamhankar, C. Alexander Valencia, Krishna K. Rayam, Manisha M. Kumar and Madhuri R. Hegde

      Article first published online: 27 NOV 2014 | DOI: 10.1002/humu.22704

  5. Research Articles

    1. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

      Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi. F. Hamdan, So-Hee Lim, Catherine Brunel-Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin M.E.J. Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna Tyynismaa, Inge Cuppen, Nienke E. Verbeek, Connie T.R.M. Stumpel, Michel A. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra and Jacques L. Michaud

      Article first published online: 27 NOV 2014 | DOI: 10.1002/humu.22709

      Thumbnail image of graphical abstract

      De novo (genetic changes not transmitted from the parents) missense mutations targeting conserved residues in the motor domain of the neuron-specific motor protein KIF1A alters its activity and cause a complex neurologic phenotype characterized by severe developmental delay and/or intellectual disability, as well as variable cerebellar atrophy, visual loss, spastic paraparesis, peripheral neuropathy and epilepsy.

    2. Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

      Aitor Etxebarria, Asier Benito-Vicente, Lourdes Palacios, Marianne Stef, Ana Cenarro, Fernando Civeira, Helena Ostolaza and Cesar Martin

      Article first published online: 27 NOV 2014 | DOI: 10.1002/humu.22721

      Thumbnail image of graphical abstract

      Familial hypercholesterolemia (FH) is an autosomal-dominant disorder mostly caused by mutations in the LDLR leading to increased risk for premature cardiovascular diseases. In this study, we have characterized seven LDLR variants, previously found in FH patients. Among them, p.Trp577Gly, p.lle624del and p.Phe800Glyfs*129 were classified as class 2, p.Cys155Tyr as class 3, p.Asn825Lys as class 4 and, p.Arg416Trp and p. Thr454Asn as class 5. These findings emphasize the importance of characterizing LDLR pathogenic variants to provide an indisputable FH diagnosis.

  6. Methods

  7. Research Articles

    1. Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy

      Melissa van Kranenburg, Marianne Hoogeveen-Westerveld and Mark Nellist

      Article first published online: 27 NOV 2014 | DOI: 10.1002/humu.22723

  8. Brief Reports

    1. Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

      Fabian Baertling, Mariel A.M. van den Brand, Jozef L. Hertecant, Aisha Al-Shamsi, Lambert P. van den Heuvel, Felix Distelmaier, Ertan Mayatepek, Jan A. Smeitink, Leo G.J. Nijtmans and Richard J.T. Rodenburg

      Article first published online: 18 NOV 2014 | DOI: 10.1002/humu.22715

      Thumbnail image of graphical abstract

      Cytochrome c oxidase (complex IV) levels are strongly reduced in cultured fibroblasts of a patient with a homozygous pathogenic variant in COA6 and severe hypertrophic neonatal cardiomyopathy. Copper supplementation partially recues complex IV deficiency in these cells providing a potential therapeutic lead for future patients.

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