A family with a grand‐maternally derived interstitial duplication of proximal 15q

Boyar, FZ; Whitney, MM; Lossie, Amy C.; Gray, BA; Keller, KL; Stalker, H. T.; Zori, Robert; Geffken, Gary R.; Mutch, John; Edge, PJ; Voeller, KS; Williams, C. P. S.; Driscoll, DJ

doi:10.1034/j.1399-0004.2001.600604.x

Cited by 53 publications

(41 citation statements)

References 45 publications

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“…10,9,23,24 These findings suggest that an increased dosage of one or more maternally expressed genes or the lack of one or more paternally expressed genes might cause susceptibility to autism. Now we show that approximately 5% of Rett patients are carriers of both an MECP2 mutation and a 15q11 -q13 rearrangement.…”

Section: Discussionmentioning

confidence: 86%

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Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

et al. 2004

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Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. Maternally inherited duplications on 15q11-q13 are found in a fraction of autistic children suggesting that an abnormal dosage of gene(s) within this region might cause susceptibility to autism. Now we show that three Rett patients are carriers of both a MECP2 mutation and a 15q11-q13 rearrangement, suggesting that there might be a relationship between autism-related genes and the MECP2 gene.

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Section: Discussionmentioning

confidence: 86%

“…This frequency is higher than that reported in autistic patients, in which a duplication of chromosome 15q11 -q13 is found in about 1% of cases. 23,24 Our results specifically point to the interval around markers D15S646 and D15S817-copy 1. This region seems to be a gene-poor region.…”

Section: Discussionmentioning

confidence: 99%

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

et al. 2004

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“…In addition, we have examined an additional 145 DNA samples to compare the DNA methylation patterns across the diagnostic categories. These include 16 PWS subjects with maternal UPD, 5 PWS subjects with an ID, 8 AS subjects with a deletion, 1 AS subject with paternal UPD, 2 AS subjects with an ID, 4 family members with a known maternal duplication of the 15q11.2-q13, 20 1 subject with maternal isodicentric duplication of chromosome 15 (47,XX,+inv dup(15)(pter-q11::q11-pter)), 105 subjects with a history of early-onset morbid obesity (EMO) and 4 phenotypically normal control subjects. The research protocol and informed consents were approved by the University of Florida Institutional Review Board.…”

Section: Materials and Methods Samplementioning

confidence: 99%

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

et al. 2011

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Prader-Willi syndrome (PWS) is a multisystem, contiguous gene disorder caused by an absence of paternally expressed genes within the 15q11.2-q13 region via one of the three main genetic mechanisms: deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. The deletion class is typically subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively). Despite PWS being a well-characterized genetic disorder the role of the specific genes contributing to various aspects of the phenotype are not well understood. Methylationspecific multiplex ligation-dependent probe amplification (MS-MLPA) is a recently developed technique that detects copy number changes and aberrant DNA methylation. In this study, we initially applied MS-MLPA to elucidate the deletion subtypes of 88 subjects. In our cohort, 32 had a Type 1 and 49 had a Type 2 deletion. The remaining seven subjects had unique or atypical deletions that were either smaller (n¼5) or larger (n¼2) than typically described and were further characterized by array-based comparative genome hybridization. In two subjects both the PWS region (15q11.2) and the newly described 15q13.3 microdeletion syndrome region were deleted. The subjects with a unique or an atypical deletion revealed distinct phenotypic features. In conclusion, unique or atypical deletions were found in B8% of the deletion subjects with PWS in our cohort. These novel deletions provide further insight into the potential role of several of the genes within the 15q11.2 and the 15q13.3 regions.

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“…Individuals with dup15q11.2-q13 do not have facial dysmorphism but have mild to moderately severe learning deficits and may have behaviors in the autism spectrum. 102 …”

Section: Deletions Of 15q112-q13 (65-75%)mentioning

confidence: 99%