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  • Régal, LucUniversitair Ziekenhuis Brussel,Catholic University of Leuven (author)

PREPL deficiency : Delineation of the phenotype and development of a functional blood assay

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • Elsevier BV,2018
  • 10 s.

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  • LIBRIS-ID:oai:lup.lub.lu.se:d89c9c9a-a02a-4229-8ec8-eaf587a364ed
  • https://lup.lub.lu.se/record/d89c9c9a-a02a-4229-8ec8-eaf587a364edURI
  • https://doi.org/10.1038/gim.2017.74DOI

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  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis. Therefore, we developed a PREPL blood assay and further delineated the phenotype.MethodsClinical features of new subjects with PREPL deficiency were recorded. The presence of PREPL in lymphocytes and its reactivity with an activity-based probe were evaluated by western blot.ResultsFive subjects with isolated PREPL deficiency, three with hypotonia-cystinuria syndrome, and two with atypical hypotonia-cystinuria syndrome had nine novel alleles. Their IQs ranged from 64 to 112. Adult neuromuscular signs included ptosis, nasal dysarthria, facial weakness, and variable proximal and neck flexor weakness. Autonomic features are prevalent. PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. PREPL is not deficient in Prader-Willi syndrome. The novel blood test should facilitate the confirmation of PREPL deficiency.

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  • Mårtensson, EmmaLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Skåne University Hospital(Swepub:lu)med-emr (author)
  • Maystadt, IsabelleInstitut de Pathologie et Génétique (author)
  • Voermans, NicolRadboud University Nijmegen (author)
  • Lederer, DamienInstitut de Pathologie et Génétique (author)
  • Burlina, AlbertoUniversity Hospital of Padua (author)
  • Juan Fita, María JesúsHospital Virgen de la Arrixaca (author)
  • Hoogeboom, A. Jeannette M.Erasmus University Medical Center (author)
  • Olsson Engman, MiaBlekinge Hospital (author)
  • Hollemans, TessUniversitair Ziekenhuis Brussel (author)
  • Schouten, MeykeRadboud University Nijmegen (author)
  • Meulemans, SandraCatholic University of Leuven (author)
  • Jonson, TordLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Skåne University Hospital(Swepub:lu)kgen-tjo (author)
  • François, IngeUniversity Hospitals Leuven (author)
  • Gil Ortega, DavidHospital Virgen de la Arrixaca (author)
  • Kamsteeg, Erik JanRadboud University Nijmegen (author)
  • Creemers, John W.M.Catholic University of Leuven (author)
  • Universitair Ziekenhuis BrusselCatholic University of Leuven (creator_code:org_t)

Related titles

  • In:Genetics in Medicine: Elsevier BV20:1, s. 109-1181098-3600

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