Idioma:

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Crow, Yanick J ; Marshall, Heather ; Rice, Gillian I ; Seabra, Luis ; Jenkinson, Emma M ; Baranano, Kristin ; Battini, Roberta ; Berger, Andrea ; Blair, Edward ; Blauwblomme, Thomas ; Bolduc, Francois ; Boddaert, Natalie ; Buckard, Johannes ; Burnett, Heather ; Calvert, Sophie ; Caumes, Roseline ; Ng, Andy Cheuk‐Him ; Chiang, Diana ; Clifford, David B ; Cordelli, Duccio M ; Burca, Anna ; Demic, Natasha ; Desguerre, Isabelle ; De Waele, Liesbeth ; Di Fonzo, Alessio ; Dunham, S. Richard ; Dyack, Sarah ; Elmslie, Frances ; Ferrand, Mickaël ; Fisher, Gemma ; Karimiani, Ehsan Ghayoor ; Ghoumid, Jamal ; Gibbon, Frances ; Goel, Himanshu ; Hilmarsen, Hilde T ; Hughes, Imelda ; Jacob, Anu ; Jones, Elizabeth A ; Kumar, Ram ; Leventer, Richard J ; MacDonald, Shelley ; Maroofian, Reza ; Mehta, Sarju G ; Metz, Imke ; Monfrini, Edoardo ; Neumann, Daniela ; Noetzel, Michael ; O'Driscoll, Mary ; Õunap, Katrin ; Panzer, Axel ; Parikh, Sumit ; Prabhakar, Prab ; Ramond, Francis ; Sandford, Richard ; Saneto, Russell ; Soh, Calvin ; Stutterd, Chloe A ; Subramanian, Gopinath M ; Talbot, Kevin ; Thomas, Rhys H ; Toro, Camilo ; Touraine, Renaud ; Wakeling, Emma ; Wassmer, Evangeline ; Whitney, Andrea ; Livingston, John H ; O'Keefe, Raymond T ; Badrock, Andrew P

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por

Enviar para

Título:
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Autor: Crow, Yanick J ; Marshall, Heather ; Rice, Gillian I ; Seabra, Luis ; Jenkinson, Emma M ; Baranano, Kristin ; Battini, Roberta ; Berger, Andrea ; Blair, Edward ; Blauwblomme, Thomas ; Bolduc, Francois ; Boddaert, Natalie ; Buckard, Johannes ; Burnett, Heather ; Calvert, Sophie ; Caumes, Roseline ; Ng, Andy Cheuk‐Him ; Chiang, Diana ; Clifford, David B ; Cordelli, Duccio M ; Burca, Anna ; Demic, Natasha ; Desguerre, Isabelle ; De Waele, Liesbeth ; Di Fonzo, Alessio ; Dunham, S. Richard ; Dyack, Sarah ; Elmslie, Frances ; Ferrand, Mickaël ; Fisher, Gemma ; Karimiani, Ehsan Ghayoor ; Ghoumid, Jamal ; Gibbon, Frances ; Goel, Himanshu ; Hilmarsen, Hilde T ; Hughes, Imelda ; Jacob, Anu ; Jones, Elizabeth A ; Kumar, Ram ; Leventer, Richard J ; MacDonald, Shelley ; Maroofian, Reza ; Mehta, Sarju G ; Metz, Imke ; Monfrini, Edoardo ; Neumann, Daniela ; Noetzel, Michael ; O'Driscoll, Mary ; Õunap, Katrin ; Panzer, Axel ; Parikh, Sumit ; Prabhakar, Prab ; Ramond, Francis ; Sandford, Richard ; Saneto, Russell ; Soh, Calvin ; Stutterd, Chloe A ; Subramanian, Gopinath M ; Talbot, Kevin ; Thomas, Rhys H ; Toro, Camilo ; Touraine, Renaud ; Wakeling, Emma ; Wassmer, Evangeline ; Whitney, Andrea ; Livingston, John H ; O'Keefe, Raymond T ; Badrock, Andrew P
Assuntos: Adolescent ; Adult ; Age ; Aged ; Animals ; C/D box snoRNA U8 ; Calcinosis - complications ; Calcinosis - genetics ; Calcinosis - pathology ; Child ; Child, Preschool ; coats plus ; Consanguinity ; Cysts ; Disease Models, Animal ; Female ; Gene polymorphism ; Genetic Association Studies ; Heterozygote ; Heterozygotes ; Humans ; Infant ; Infant, Newborn ; Labrune syndrome ; Leukoencephalopathies - complications ; Leukoencephalopathies - genetics ; Leukoencephalopathies - pathology ; Leukoencephalopathy ; leukoencephalopathy with calcifications and cysts ; Male ; Middle Aged ; Mutation ; Nucleoli ; Nucleotides ; Pathology, Molecular ; Phenotypes ; ribosomopathy ; RNA, Small Nucleolar - genetics ; SNORD118 ; snoRNA ; Young Adult ; Zebrafish - genetics
É parte de: American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.15-25
Notas: Funding information
Agence Nationale de la Recherche, Grant/Award Number: ANR‐10‐IAHU‐01; Estonian Research Competency Council, Grant/Award Number: PRG471; Great Ormond Street Hospital Charity, Grant/Award Number: V4017; MSD‐Avenir, Grant/Award Number: Award to Institute Imagine Paris
ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across SNORD118 in controls, we set out to provide a description of the molecular pathology and clinical spectrum observed in a cohort of patients with LCC. We identified 64 affected individuals from 56 families. Age at presentation varied from 3 weeks to 67 years, with disease onset after age 40 years in eight patients. Ten patients had died. We recorded 44 distinct, likely pathogenic, variants in SNORD118. Fifty two of 56 probands were compound heterozygotes, with parental consanguinity reported in only three families. Forty nine of 56 probands were either heterozygous (46) or homozygous (three) for a mutation involving one of seven nucleotides that facilitate a novel intramolecular interaction between the 5′ end and 3′ extension of precursor‐U8. There was no obvious genotype–phenotype correlation to explain the marked variability in age at onset. Complementing recently published functional analyses in a zebrafish model, these data suggest that LCC most often occurs due to combinatorial severe and milder mutations, with the latter mostly affecting 3′ end processing of precursor‐U8.
Editor: Hoboken, USA: John Wiley & Sons, Inc
Idioma: Inglês

Links

View this record in MEDLINE/PubMed

Voltar para lista de resultados

Realização: Logos de Redes Sociais:

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Hoboken, USA: John Wiley & Sons, Inc

Buscando em bases de dados remotas. Favor aguardar.