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Multi-system disorder syndromes associated with cystinuria type I
Kevin Martens1, Jaak Jaeken, Gert Matthijs
1Laboratory for Biochemical Neuroendocrinology, Centre for Human Genetics, University of Leuven, Belgium.
Current Molecular Medicine
|September 11, 2008
Summary
Cystinuria type I and related deletion syndromes (HCS, atypical HCS, 2p21 deletion) show varying severity based on deleted genes, impacting renal function, development, and cellular respiration.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Cystinuria type I is an autosomal recessive disorder caused by SLC3A1 mutations.
- Three related contiguous gene deletion syndromes—Hypotonia-Cystinuria Syndrome (HCS), atypical HCS, and 2p21 deletion syndrome—have been identified.
Purpose of the Study:
- To review and compare the phenotypic similarities and differences of these related syndromes.
- To speculate on the functions of deleted gene products based on available data.
Main Methods:
- Genetic analysis of patients with HCS, atypical HCS, and 2p21 deletion syndrome.
- Phenotypic characterization including clinical features and biochemical assays.
Main Results:
- Syndromes differ in the number of deleted genes: HCS (SLC3A1, PREPL), atypical HCS (adds C2orf34), 2p21 deletion syndrome (adds PPM1B).
- Phenotypic severity correlates with the number of deleted genes, ranging from mild HCS to severe 2p21 deletion syndrome.
- Specific features include renal cystinuria, hypotonia, growth retardation, dysmorphic features, psychomotor retardation, and decreased respiratory chain complex activity.
Conclusions:
- The number of deleted genes dictates the spectrum of clinical manifestations in these contiguous gene deletion syndromes.
- Understanding gene functions is crucial for explaining the varying phenotypes observed.
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