120 e-Letters

  • 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...

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  • 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...

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  • 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...

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  • 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...

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  • Re:Do patients with single NLRP7 private variants have a genetic predisposition to hydatidiform moles and reproductive wastage?
    Rosemary A Fisher

    Response to "Do patients with single NLRP7 private variants have a genetic predisposition to hydatidiform moles and reproductive wastage?"

    Peter H Dixon and Rosemary A Fisher

    We thank Professor Slim for her interest in our article "Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles" [1]. We would like to confirm that, as stated in the methods...

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  • Do patients with single NLRP7 private variants have a genetic predisposition to hydatidiform moles and reproductive wastage?
    Rima Slim

    We would like to comment on Dixon et al., 2012 who questioned the pathogenicity of private NLRP7 variants found in a heterozygous state in singleton cases with one to three hydatidiform moles. The interesting part of this work is in the analysis of nine patients with recurrent androgenetic moles despite that only reports demonstrating that three of these patients had had recurrent androgenetic moles are provided either in...

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  • Response
    pamela correia

    I think this is a wonderful article, especially since it presents path breaking evidence regarding the origins of the RAPSYN mutations. The subject of Congenital Myesthenic Syndromes is now getting its much needed attention, and such work will go a long way for this cause.

    Conflict of Interest:

    None declared

  • Mutational analysis of the SMA patients towards the diagnosis and clinical severity of the SMA
    Atif Baig

    We have read the entire paper with great care. We totally agree with the findings of the respected authors in this respective article. The article seems to be used by many researchers as a reference article so we need to update the status of SMA diagnosis for non deleted SMA patients. Many new approaches have been employed to diagnose non deleted SMA. One of such methods is long range PCR method (LR-PCR) (Clemont et al....

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  • Commentary on clinical utility of NOTCH2 sequencing analysis in Alagille syndrome
    Daniela Marchetti
    It was with great interest that we have read the recent article published by Kamath et al. [1] dealing with NOTCH2 mutations in patients affected by Alagille syndrome (ALGS) negative for JAG1 gene mutations and rearrangements. This original article brings relevant information about the mutation frequencies and genotype-phenotype data regarding NOTCH2 gene. Previously only two mutations, one missense and one splicing, have been rep...
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  • Analysis in yeast suggests that POLG p.G268A is neither a pathological mutation nor a neutral SNP
    Enrico Baruffini

    It was with great interest that I read the study by Tang and co- authors [1], in which they discovered twenty-five novel mutations in DNA polymerase gamma. Based on the presence of p.G268A substitution in heterozygosis in 19 subjects from a cohort of 2697 unrelated patients, they proposed to reclassify this mutation as a neutral polymorphism or a polymorphic modifier rather than a pathological mutation. Smith and co- auth...

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