G.P.73 Abnormal neuromuscular transmission in infants with Prader–Willi syndrome

Rajendran, B.; Young, H.; Tidswell, T; Mansur, Alfredo José; Sa, Robb; Pitt, Matthew

doi:10.1016/j.nmd.2012.06.179

Cited by 1 publication

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“…Cognitive impairment, although more severe in Prader-Willi syndrome, is also common. Xerostomia and neuromuscular junction abnormalities 27 are also features of Prader-Willi syndrome, as is growth hormone deficiency. 28 Eyelid ptosis, however, is absent in Prader-Willi syndrome, and the severe behavioral problems in Prader-Willi syndrome are not seen in PREPL deficiency.…”

Section: Comparison With Prader-willi Syndromementioning

confidence: 99%

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

Régal

Mårtensson

Maystadt

et al. 2018

Genetics in Medicine

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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.

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Section: Comparison With Prader-willi Syndromementioning

confidence: 99%