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Tytuł pozycji:

Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats

Tytuł :
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats
Autorzy :
Stankiewicz, P.
Kulkarni, S.
Dharmadhikari, A.V.
Sampath, S.
Bhatt, S.S.
Shaikh, T.H.
Xia, Z.
Pursley, A.N.
Cooper, M.L.
Shinawi, M.
Paciorkowski, A.R.
Grange, D.K.
Noetzel, M.J.
Saunders, S.
Simons, P.
Summar, M.
Lee, B.
Scaglia, F.
Fellmann, F.
Martinet, D.
Beckmann, J.S.
Asamoah, A.
Platky, K.
Sparks, S.
Martin, A.S.
Madan-Khetarpal, S.
Hoover, J.
Medne, L.
Bonnemann, C.G.
Moeschler, J.B.
Vallee, S.E.
Parikh, S.
Irwin, P.
Dalzell, V.P.
Smith, W.E.
Banks, V.C.
Flannery, D.B.
Lovell, C.M.
Bellus, G.A.
Golden-Grant, K.
Gorski, J.L.
Kussmann, J.L.
McGregor, T.L.
Hamid, R.
Pfotenhauer, J.
Ballif, B.C.
Shaw, C.A.
Kang, S.H.
Bacino, C.A.
Patel, A.
Rosenfeld, J.A.
Cheung, S.W.
Shaffer, L.G.
Pokaż więcej
Temat :
Abnormalities, Multiple/genetics
Child
Child, Preschool
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 10
DNA Copy Number Variations
Developmental Disabilities/complications
Developmental Disabilities/genetics
Female
Genetic Variation
Homologous Recombination
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability/complications
Intellectual Disability/genetics
Male
Nerve Growth Factors/genetics
Oligonucleotide Array Sequence Analysis
Penetrance
Segmental Duplications, Genomic/genetics
Sequence Deletion
Vesicular Acetylcholine Transport Proteins/genetics
Article
Źródło :
Human Mutation, vol. 33, no. 1, pp. 165-179
Rok publikacji :
2011
Kolekcja :
Serveur_academique_lausannois_enriched
Serveur_academique_lausannois
Oryginalny identyfikator :
pmc: PMC3655525
pmid: 21948486
Opis pliku :
application/pdf
Język :
English
ISSN :
1098-1004
DOI :
10.1002/humu.21614
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplications are flanked by large, directly oriented segmental duplications of >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine individuals with deletions and five with duplications have additional copy number changes. Detailed clinical evaluation of 20 patients with deletions revealed variable clinical features, with developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. We suggest that some of the other features present in more than one patient with deletion, including hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis may result from deletion of the CHAT gene, encoding choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT and encoding vesicular acetylcholine transporter. The phenotypic diversity and presence of the deletion in apparently normal carrier parents suggest that subjects carrying 10q11.21q11.23 deletions may exhibit variable phenotypic expressivity and incomplete penetrance influenced by additional genetic and nongenetic modifiers.

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