16 e-Letters

published between 2013 and 2016

  • Role of Hypoxia Inducible Factor 2 and NFKB in lipodystrophy and Obesity
    Atif A Baig

    I have read all the respective article and I agreed to most of the findings. Recently, our group has been working with metabolomics towards lipodystropy and we did found similar findings. Recently it has been reported (Abael et al., 2010) that the changes in local thyroid hormone (TH) metabolism may occur in areas with lipoatrophy. These changes could be because of different molecular mechanisms (for example; levels of...

    Show More
  • C-terminus truncation of Seipin as a good potential sign of diseases
    Wei-Li Yu

    C-terminus truncation of Seipin as a good potential sign of diseases

    Wei-Li Yu and Yun Sun

    Seipin is a transmembrane protein of the endoplasmic reticulum with N, C-terminus residing the intracytoplasmic side.1 2 Loss of Seipin function has been shown to lead to severe lipodystrophy, motor neuropathy and silver syndrome.3 However, its molecular mechanism is still unknown. Recently Guillén-Navarro E et al 4...

    Show More
  • The D982G missense mutation in LAMB3 is unlikely to cause junctional epidermolysis bullosa
    Lauren C Briere

    We found this paper to be immensely informative while researching junctional epidermolysis bullosa (JEB) for a particular clinical case, which is described below. During the course of testing for this particular case we found evidence suggesting that that the D982G mutation in LAMB3 may not be disease-causing.

    In their paper, Varki, Sadowski, and Pfender et al. present the case of an eight-month-old male patie...

    Show More
  • Answer to >
    Frederic Brioude

    RSS was first described in 1953 [1]. It is a clinically and genetically heterogeneous condition. Clinical diagnosis is based on various characteristics including slow growth before and after birth, relative macrocephaly, a prominent forehead at a young age, hemihypotrophy, and fifth finger clinodactyly. Five different diagnostic scoring systems of RSS have been published. These systems take into account most major clini...

    Show More
  • Dubious classification Russell Silver Syndrome
    Arlan L Rosenbloom

    In 2007, Netchine et al. identified imprinting center region I (ICRI) loss of methylation (LOM) as a cause of typical Russell Silver syndrome (RSS) in 37 of 58 subjects who met their recruitment criteria of intrauterine growth retardation (IUGR/SGA) plus at least 3 of 5 criteria: 1) postnatal growth retardation; 2) relative macrocephaly at birth; 3) prominent forehead during early childhood; 4) body asymmetry, and; 5) fe...

    Show More
  • RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
    Vera M. Kalscheuer

    Re: Disruption of RAB40AL function leads to Martin-Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. J Med Genet. 2012 May;49(5):332- 40.

    With great interest we have read the article by B...

    Show More