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PREPL deficiency : ...
PREPL deficiency : Delineation of the phenotype and development of a functional blood assay
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- Régal, Luc (author)
- Universitair Ziekenhuis Brussel,Catholic University of Leuven
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- Mårtensson, Emma (author)
- Lund 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
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- Maystadt, Isabelle (author)
- Institut de Pathologie et Génétique
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- Voermans, Nicol (author)
- Radboud University Nijmegen
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- Lederer, Damien (author)
- Institut de Pathologie et Génétique
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- Burlina, Alberto (author)
- University Hospital of Padua
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- Juan Fita, María Jesús (author)
- Hospital Virgen de la Arrixaca
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- Hoogeboom, A. Jeannette M. (author)
- Erasmus University Medical Center
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- Olsson Engman, Mia (author)
- Blekinge Hospital
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- Hollemans, Tess (author)
- Universitair Ziekenhuis Brussel
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- Schouten, Meyke (author)
- Radboud University Nijmegen
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- Meulemans, Sandra (author)
- Catholic University of Leuven
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- Jonson, Tord (author)
- Lund 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
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- François, Inge (author)
- University Hospitals Leuven
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- Gil Ortega, David (author)
- Hospital Virgen de la Arrixaca
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- Kamsteeg, Erik Jan (author)
- Radboud University Nijmegen
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- Creemers, John W.M. (author)
- Catholic University of Leuven
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(creator_code:org_t)
- Elsevier BV, 2018
- 2018
- English 10 s.
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 20:1, s. 109-118
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http://dx.doi.org/10...
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https://www.nature.c...
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- blood assay
- hypotonia-cystinuria syndrome
- neonatal hypotonia8Prader-Willi syndrome
- PREPL
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Régal, Luc
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Mårtensson, Emma
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Maystadt, Isabel ...
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Voermans, Nicol
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Lederer, Damien
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Burlina, Alberto
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show more...
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Juan Fita, María ...
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Hoogeboom, A. Je ...
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Olsson Engman, M ...
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Hollemans, Tess
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Schouten, Meyke
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Meulemans, Sandr ...
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Jonson, Tord
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François, Inge
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Gil Ortega, Davi ...
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Kamsteeg, Erik J ...
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Creemers, John W ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Genetics in Medi ...
- By the university
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Lund University