A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies

Zaffanello, Marco; Beghini, Renzo; Zamboni, Giorgio; Fanos, Vassilios

doi:10.1007/s00467-003-1189-y

Cited by 10 publications

(7 citation statements)

References 6 publications

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“…The most frequently described microdeletion syndrome in this region is classical HCS which is caused by homozygous deletions of 24–100 kb encompassing two genes, SLC3A1 and PREPL . It has been described in a number of families from different ethnic backgrounds [Zaffanello et al, ; Jaeken et al, ; Martens et al, ; Eggermann et al, ; Régal et al, ]. Since inactivation of SLC3A1 causes isolated cystinuria, the other features of HCS can be attributed to the disruption of PREPL .…”

Section: Discussionmentioning

confidence: 99%

“…Hypotonia‐cystinuria syndrome (HCS, MIM606407) is characterized by severe infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions encompassing the SLC3A1 and PREPL genes [Zaffanello et al, ; Jaeken et al, ; Martens et al, ; Régal et al, ; Eggermann et al, ]. 2p21 deletion syndrome, in addition to the features of HCS, is characterized by neonatal seizures, elevated serum lactate concentrations and developmental delay.…”

Section: Introductionmentioning

confidence: 99%

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Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

Bartholdi

Asadollahi

Oneda

et al. 2013

American J of Med Genetics Pt A

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Homozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes have been described, all presenting with cystinuria but otherwise distinct phenotypes. Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the cystinuria gene SLC3A1 and the adjacent PREPL gene. Larger homozygous deletions in this region encompassing the PPM1B, SLC3A1, PREPL, and C2orf34 (CAMKMT) genes result in a more severe phenotype, the 2p21 deletion syndrome. A phenotype intermediate to HCS and the 2p21 deletion syndrome is termed atypical HCS and is caused by deletion of SLC3A1, PREPL, and C2orf34 (CAMKMT). Using high resolution SNP array molecular karyotyping we identified two siblings with a homozygous deletion of 83 kb partially encompassing the genes PREPL and C2orf34 (CAMKMT), but not the SLC3A1 gene. The affected siblings display a recognizable phenotype which is similar to atypical HCS with regard to growth failure and neuro-muscular features, but is characterized by lack of cystinuria. The patients also exhibit features which have not been reported to date such as cleft palate and genital abnormalities. In conclusion, we report the first patients with a homozygous 2p21 deletion syndrome without cystinuria and further delineate the complex genotype-phenotype correlations of homozygous microdeletion syndromes of this region.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

Bartholdi

Asadollahi

Oneda

et al. 2013

American J of Med Genetics Pt A

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“…Molecular analysis of the SLC3A1/PREPL locus was suggested but not performed. 9 This report focuses on the molecular analysis of four new HCS families, including two previously described cases.…”

Section: Introductionmentioning

confidence: 99%

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome

et al. 2007

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“…A cytochrome C oxidase deficiency (complex IV) was observed in patient 2. However, one classical HCS patient (family 13, homozygous for deletion B7) was reported to have a complete complex V deficiency 9. It was postulated that complex V deficiency was caused by additional modifier genes, either in cis or in trans 7.…”

Section: Discussionmentioning

confidence: 99%

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

Chabrol¹,

Martens

Meulemans

et al. 2009

Case Reports

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Hypotonia-cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost. Molecular analysis of the SLC3A1/PREPL locus was performed in the patients using quantitative polymerase chain reaction (PCR) methods. HCS in both siblings was confirmed with the deletion screen of the SLC3A1/PREPL locus. Fine mapping of the breakpoint revealed a deletion of 77.4 kb, including three genes: SLC3A1, PREPL and C2orf34. Features not present in classical HCS were a mild/moderate mental retardation and a respiratory chain complex IV deficiency. We report the first patients with a deletion of SLC3A1, PREPL and C2orf34. They present with a phenotype intermediate between HCS and 2p21 deletion syndrome.

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A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies

Cited by 10 publications

References 6 publications

Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome

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