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      A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature

      case-report

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          Key Clinical Message

          We report a novel 9q31.2q32 (chr9: 109195179‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities. In comparing these cases, we suggest critical region of chr9: 109711873‐113407621 (hg 18).

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          Most cited references27

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          Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.

          Stefania Bandinelli, Douglas P Kiel, Ellen W Demerath … (2009)
          We conducted a meta-analysis of genome-wide association data to detect genes influencing age at menarche in 17,510 women. The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462. The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(-9)), which also influences adult height. We provide the first evidence for common genetic variants influencing female sexual maturation.
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            Roles of Krüpel-like factor 4 in normal homeostasis, cancer and stem cells.

            Paul Evans, Chunming Liu (2008)
            Krüpel-like factor 4 (KLF4) is a zinc finger-type transcription factor expressed in a variety of tissues, including the epithelium of the intestine and the skin, and it plays an important role in differentiation and cell cycle arrest. Depending on the gene targeted, KLF4 can both activate and repress transcription. Moreover, in certain cellular contexts, KLF4 can function as a tumor suppressor or an oncogene. Finally, KLF4 is important in reprogramming differentiated fibroblasts into inducible pluripotent stem cells, which highly resemble embryonic stem cells. This review summarizes what is known about the diverse functions of KLF4 as well as their molecular mechanisms.
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              Modafinil for cognitive neuroenhancement in healthy non-sleep-deprived subjects: A systematic review.

              R Battleday, A-K Brem (2015)
              Modafinil is an FDA-approved eugeroic that directly increases cortical catecholamine levels, indirectly upregulates cerebral serotonin, glutamate, orexin, and histamine levels, and indirectly decreases cerebral gamma-amino-butrytic acid levels. In addition to its approved use treating excessive somnolence, modafinil is thought to be used widely off-prescription for cognitive enhancement. However, despite this popularity, there has been little consensus on the extent and nature of the cognitive effects of modafinil in healthy, non-sleep-deprived humans. This problem is compounded by methodological discrepancies within the literature, and reliance on psychometric tests designed to detect cognitive effects in ill rather than healthy populations. In order to provide an up-to-date systematic evaluation that addresses these concerns, we searched MEDLINE with the terms "modafinil" and "cognitive", and reviewed all resultant primary studies in English from January 1990 until December 2014 investigating the cognitive actions of modafinil in healthy non-sleep-deprived humans. We found that whilst most studies employing basic testing paradigms show that modafinil intake enhances executive function, only half show improvements in attention and learning and memory, and a few even report impairments in divergent creative thinking. In contrast, when more complex assessments are used, modafinil appears to consistently engender enhancement of attention, executive functions, and learning. Importantly, we did not observe any preponderances for side effects or mood changes. Finally, in light of the methodological discrepancies encountered within this literature, we conclude with a series of recommendations on how to optimally detect valid, robust, and consistent effects in healthy populations that should aid future assessment of neuroenhancement.
              Article 0 comments Cited 61 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                David Coman:
                ORCID: http://orcid.org/0000-0001-6303-6471
                enquiries@drdavidcoman.com.au
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 07 January 2019
                Publication date Collection: February 2019
                Volume: 7
                Issue: 2 ( doiID: 10.1002/ccr3.2019.7.issue-2 )
                Pages: 304-310
                Affiliations
                [ 1 ] Department of Paediatrics The Wesley Hospital Brisbane Queensland Australia
                [ 2 ] Discipline of Paediatrics UnitingCare Clinical School Brisbane Queensland Australia
                [ 3 ] Department of Neurosciences Lady Cilento Children's Hospital Brisbane Queensland Australia
                [ 4 ] School of Medicine The University of Queensland Brisbane Queensland Australia
                [ 5 ] Victorian Clinical Genetics Services Parkville Victoria Australia
                [ 6 ] Murdoch Children's Research Institute Parkville Victoria Australia
                [ 7 ] Department of Paediatrics University of Melbourne Parkville Victoria Australia
                [ 8 ] Department of Paediatrics Sunshine Coast University Hospital Sunshine Coast Queensland Australia
                [ 9 ] School of Medicine Griffith University Gold Coast Queensland Australia
                Author notes
                [*] [* ] Correspondence

                David Coman, Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia.

                Email: enquiries@ 123456drdavidcoman.com.au

                Author information
                http://orcid.org/0000-0001-6303-6471
                Article
                Publisher ID: CCR31970
                DOI: 10.1002/ccr3.1970
                PMC ID: 6389485
                PubMed ID: 30847195
                SO-VID: 8ee39160-9773-4857-bfde-4f4e129199b3
                Copyright © © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 28 June 2018
                Date revision received : 04 November 2018
                Date accepted : 22 November 2018
                Page count
                Figures: 3, Tables: 2, Pages: 7, Words: 4406
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                component-id ccr31970
                cover-date February 2019
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:5.6.0 mode:remove_FC converted:25.02.2019

                Keywords: 9q microdeletion,delayed puberty,fatigue,frrs1l,klf4,sensorineural hearing loss,txn,ucgc,znf48
                Data availability:
                Keywords: 9q microdeletion, delayed puberty, fatigue, frrs1l, klf4, sensorineural hearing loss, txn, ucgc, znf48

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