Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013362 (
dysarthria
)
3,768
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:PREPL deficiency: delineation of the phenotype and development of a functional blood assay. 2872 5
