دورية أكاديمية
أعرض في EDS

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

التفاصيل البيبلوغرافية
العنوان: Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
المؤلفون: Burnside RD; Laboratory Corporation of America, 1904 Alexander Dr., Research Triangle Park, NC 27709, USA. burnsir@labcorp.com, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG
المصدر: Human genetics [Hum Genet] 2011 Oct; Vol. 130 (4), pp. 517-28. Date of Electronic Publication: 2011 Feb 27.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: Berlin : Springer Verlag
Original Publication: Berlin, New York, Springer-Verlag.
مواضيع طبية MeSH: Chromosome Deletion* , Gene Duplication*, Adaptor Proteins, Signal Transducing/*genetics , Chromosomes, Human, Pair 15/*genetics , Developmental Disabilities/*genetics , Language Development Disorders/*genetics , Mental Disorders/*genetics, Adolescent ; Adult ; Angelman Syndrome/genetics ; Autistic Disorder/genetics ; Biomarkers/metabolism ; Child ; Child, Preschool ; Chromosome Disorders ; Comparative Genomic Hybridization ; Disease Susceptibility ; Female ; Gene Expression Profiling ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Speech Disorders/genetics ; Young Adult
مستخلص: The proximal long arm of chromosome 15 has segmental duplications located at breakpoints BP1-BP5 that mediate the generation of NAHR-related microdeletions and microduplications. The classical Prader-Willi/Angelman syndrome deletion is flanked by either of the proximal BP1 or BP2 breakpoints and the distal BP3 breakpoint. The larger Type I deletions are flanked by BP1 and BP3 in both Prader-Willi and Angelman syndrome subjects. Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. Reports of mutations or disturbed expression of these genes appear to impact behavioral and neurological function in affected individuals. Recently, reports of deletions and duplications flanked by BP1 and BP2 suggest an association with speech and motor delays, behavioral problems, seizures, and autism. We present a large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features. These include autism, developmental delay, motor and language delays, and behavioral problems, which were present in both cytogenetic groups. Parental studies demonstrated phenotypically normal carriers in several instances, and mildly affected carriers in others, complicating phenotypic association and/or causality. Possible explanations for these results include reduced penetrance, altered gene dosage on a particular genetic background, or a susceptibility region as reported for other areas of the genome implicated in autism and behavior disturbances.
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معلومات مُعتمدة: U54 RR019478 United States RR NCRR NIH HHS
المشرفين على المادة: 0 (Adaptor Proteins, Signal Transducing)
0 (Biomarkers)
تواريخ الأحداث: Date Created: 20110302 Date Completed: 20111114 Latest Revision: 20211020
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC6814187
DOI: 10.1007/s00439-011-0970-4
PMID: 21359847
قاعدة البيانات: MEDLINE
الوصف
تدمد:1432-1203
DOI:10.1007/s00439-011-0970-4