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- W2020081455 abstract "SIR–We have read with interest the very useful review on genetic evaluation of a pediatric patient with hypotonia by Lisi and Cohn.1 To this discussion we would like to add the hypotonia-cystinuria syndrome (HCS), which is caused by a homozygous contiguous deletion of two genes: SLC3A1 (mutations which cause cystinuria type I) and PREPL.2 HCS resembles Prader-Willi syndrome (PWS), and is characterized by generalized, severe hypotonia at birth, nephrolithiasis due to cystinuria, growth hormone deficiency, minor facial dysmorphism, and failure to thrive, followed by hyperphagia and rapid weight gain in late childhood. The function of PREPL and how deletions of this gene cause this PWS-like disorder is still unclear.3 Larger deletions involving these two as well as neighbouring genes also exist and are associated with more severe and extended phenotypes.4 HCS can be easily diagnosed by urinary amino acid analysis. We would therefore suggest adding urinary amino acid analysis (and not only plasma amino acid analysis) to the evaluation of patients with hypotonia to allow for the detection of HCS. Theoretically, this syndrome (without the cystinuria) could also be caused by mutations of the PREPL gene alone but this has not been reported yet. HCS should be considered in patients with a PWS-like phenotype without the typical chromosomal abnormality of PWS." @default.
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- W2020081455 date "2011-12-29" @default.
- W2020081455 modified "2023-09-23" @default.
- W2020081455 title "Evaluation of the pediatric patient with hypotonia: don’t forget the hypotonia-cystinuria syndrome!" @default.
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- W2020081455 doi "https://doi.org/10.1111/j.1469-8749.2011.04195.x" @default.
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