Alexandra Wilhelm-Bals Author

Case Report Open Access

Atypical Hypotonia-Cystinuria a New Case: Genotype-Phenotype, Description

Author(s):

Preka Evgenia, Ariane Paoloni-Giacobino, Frédérique Sloan-Béna, Paloma Parvex and Alexandra Wilhelm-Bals

“Hypotonia-cystinuria syndrome” (HCS) and “the 2p21 deletion syndrome” are two recessive contiguous gene deletion syndromes associated with cystinuria. The deletions differ in size and number of genes involved. HCS is characterized by hypotonia, failure to thrive, severe growth retardation, growth hormone deficiency, characteristic facial dysmorphy and cystinuria. In addition to mental retardation and respiratory chain complex deficiency, the 2p21 deletion syndrome presents HCS features. In HCS, SLC3A1 and PREPL genes are disrupted, while in the 2p21 deletion syndrome two additional genes (C2orf34 and PM1B) are deleted. Mutations in SLC3A1 are known to cause cystinuria. The extended phenotypes are attributed to PREPL and C2orf34 PM1B deletions. While HCS is descr... view more»

DOI: 10.4172/2327-5790.1000180

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