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Mutations in HPSE2 cause urofacial syndrome.

Artikel i vetenskaplig tidskrift
Författare Sarah B Daly
Jill E Urquhart
Emma Hilton
Edward A McKenzie
Richard A Kammerer
Malcolm Lewis
Bronwyn Kerr
Helen Stuart
Dian Donnai
David A Long
Berk Burgu
Özgu Aydogdu
Murat Derbent
Sixto Garcia-Minaur
Willie Reardon
Blanca Gener
Stavit Shalev
Rupert Smith
Adrian S Woolf
Graeme C Black
William G Newman
Publicerad i American journal of human genetics
Volym 86
Nummer/häfte 6
Sidor 963-9
ISSN 1537-6605
Publiceringsår 2010
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi
Sidor 963-9
Språk en
Länkar www.ncbi.nlm.nih.gov/entrez/query.f...
Ämnesord Brain, metabolism, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 10, Facies, Female, Genes, Recessive, Glucuronidase, chemistry, genetics, metabolism, Humans, Male, Models, Molecular, Muscles, metabolism, Mutation, Pedigree, Syndrome, Urinary Bladder, metabolism, Urologic Diseases, genetics
Ämneskategorier Molekylär medicin (genetik och patologi), Pediatrik, Urologi och andrologi, Urologi och njurmedicin, Klinisk medicin

Sammanfattning

Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. Urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. UFS individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. Whole-genome SNP mapping in one affected individual defined an autozygous region of 16 Mb on chromosome 10q23-q24, within which a 10 kb deletion encompassing exons 8 and 9 of HPSE2 was identified. Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS. Mutations were not identified in four additional UFS patients, indicating genetic heterogeneity. We show that HPSE2 is expressed in the fetal and adult central nervous system, where it might be implicated in controlling facial expression and urinary voiding, and also in bladder smooth muscle, consistent with a role in renal tract morphology and function. Our findings have broader implications for understanding the genetic basis of lower renal tract malformations and voiding dysfunction.

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