Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.
Eur J Hum Genet
; 15(10): 1029-33, 2007 Oct.
Article
em En
| MEDLINE
| ID: mdl-17579669
ABSTRACT
Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I. While the initially described HCS families live in small regions in Belgium and France, we have now identified HCS alleles in patients and carriers from the Netherlands, Italy, Canada and United States of America. Surprisingly, among the nine deletions detected in those patients, only one novel deletion was found. Furthermore, one previously described deletion was found six times, another twice. Finally, we have investigated the frequency of both deletions using a random Belgian cohort. Given the global occurrence, HCS should be considered in the differential diagnosis of neonatal hypotonia.
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Bases de dados:
MEDLINE
Assunto principal:
Deleção Cromossômica
/
Cistinúria
/
Hipotonia Muscular
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Eur J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Bélgica