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      Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

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          Abstract

          X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities.

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          Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

          Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
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            X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

            A large French family including members affected by nonspecific X-linked mental retardation, with or without autism or pervasive developmental disorder in affected male patients, has been found to have a 2-base-pair deletion in the Neuroligin 4 gene (NLGN4) located at Xp22.33. This mutation leads to a premature stop codon in the middle of the sequence of the normal protein and is thought to suppress the transmembrane domain and sequences important for the dimerization of neuroligins that are required for proper cell-cell interaction through binding to beta-neurexins. As the neuroligins are mostly enriched at excitatory synapses, these results suggest that a defect in synaptogenesis may lead to deficits in cognitive development and communication processes. The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins.
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              Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

              Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventually leading to the First Ichthyosis Consensus Conference held in Sorèze, France, on January 23 and 24, 2009, where subcommittees on different issues proposed terminology that was debated until consensus was reached. It was agreed that currently the nosology should remain clinically based. "Syndromic" versus "nonsyndromic" forms provide a useful major subdivision. Several clinical terms and controversial disease names have been redefined: eg, the group caused by keratin mutations is referred to by the umbrella term, "keratinopathic ichthyosis"-under which are included epidermolytic ichthyosis, superficial epidermolytic ichthyosis, and ichthyosis Curth-Macklin. "Autosomal recessive congenital ichthyosis" is proposed as an umbrella term for the harlequin ichthyosis, lamellar ichthyosis, and the congenital ichthyosiform erythroderma group. As more becomes known about these diseases in the future, modifications will be needed. We have achieved an international consensus for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research. Copyright © 2010 American Academy of Dermatology, Inc. All rights reserved.
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                Author and article information

                Journal
                British Journal of Dermatology
                Br J Dermatol
                Wiley
                00070963
                October 2018
                October 2018
                September 11 2018
                : 179
                : 4
                : 933-939
                Affiliations
                [1 ]Department of Dermatology; Hospital Infantil Niño Jesús; Madrid Spain
                [2 ]Molecular Medicine Unit-Department of Medicine; IBSAL and IBMCC and University Hospital of Salamanca; CSIC, University of Salamanca; Spain
                [3 ]Department of Dermatology; Hospital Son Espases; Palma de Mallorca Spain
                [4 ]Department of Dermatology; Hospital Universitario de Salamanca; Salamanca Spain
                [5 ]Department of Dermatology; Hospital Sant Joan de Deu; Barcelona Spain
                [6 ]Department of Neurology; Hospital Infantil Niño Jesús; Madrid Spain
                Article
                10.1111/bjd.16826
                29901853
                1c27d784-810b-4690-836e-76f2135200dd
                © 2018

                http://doi.wiley.com/10.1002/tdm_license_1.1

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