Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Ballif, Blake C.; Theisen, Aaron; Coppinger, Justine; Gowans, Gordon C.; Hersh, Joseph H.; Madan‐Khetarpal, Suneeta; Schmidt, Karen R; Tervo, Raymond C.; Escobar, Luis; Friedrich, Christopher A.; McDonald, Marie; Campbell, Lindsey; Ming, Jeffrey E.; Zackai, Elaine H.; Bejjani, Bassem A.; Shaffer, Lisa G.

doi:10.1186/1755-8166-1-8

Cited by 213 publications

(262 citation statements)

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“…15 For many of the recurrent microdeletion syndromes caused by NAHR, reciprocal microduplications have been identified and 16 has a reciprocal microduplication that is also characterized by variable phenotypes (OMIM 611936). 17 Two more well-characterized examples are Williams syndrome (OMIM 194050), due to a microdeletion at 7q11.23, and its reciprocal microduplication syndrome (OMIM 609757); 18,19 and Smith-Magenis syndrome (OMIM 182290), due to microdeletion at 17p11.2, and Potocki-Lupski syndrome (OMIM 610883), caused by the reciprocal microduplication. 20,21 Analysis of the phenotypic consequences of the reciprocal NF1 microduplications, however, has been reported in detail in just one multigenerational family.…”

Section: Introductionmentioning

confidence: 99%

“…24 Whole-genome bacterial artificial chromosome-based microarray analysis was originally performed on DNA from subject 4 as previously described. 17 Oligonucleotide-based microarray analysis was originally performed on DNA from subjects 5, 6, and 7 using a custom 12-plex 135K-feature whole-genome oligonucleotide microarray (SignatureChip Oligo Solution v2.0, custom-designed by Signature Genomic Laboratories, Spokane, WA, and manufactured by Roche NimbleGen, Madison, WI) using previously described methods. 25 DNA from subjects 1, 2, and 4 were rerun on the SignatureChip Oligo Solution v2.0 12-plex to refine the size of the duplication.…”

Section: Introductionmentioning

confidence: 99%

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NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

Moles

Gowans

Gedela

et al. 2012

Genetics in Medicine

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Purpose: Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous 17q11.2 deletion encompassing NF1, formed through nonallelic homologous recombination (NAHR) between the low-copy repeats that flank this region. NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas. Although NAHR can also cause reciprocal microduplications, reciprocal NF1 duplications have been previously reported in just one multigenerational family and a second unrelated proband. methods:We analyzed the clinical features in seven individuals with NF1 microduplications, identified among 48,817 probands tested in our laboratory by array-based comparative genomic hybridization. Results:The only clinical features present in more than one individual were variable DD/ID, facial dysmorphisms, and seizures. No neurofibromas were present. Three sets of parents were tested: one duplication was apparently de novo, one inherited from an affected mother, and one inherited from a clinically normal father.conclusion: This is the first report comparing the phenotypes of nonrelated individuals with NF1 microduplications. This comparison will allow for further definition of this emerging microduplication syndrome.Genet Med 2012:14(5):508-514

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

Moles

Gowans

Gedela

et al. 2012

Genetics in Medicine

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“…In all studies the case-enriched CNVs are typically very rare with the most common loci being hotspots where the copy number of flanking segmental duplications lead to an elevated local mutation rate Ballif et al, 2008]. In general, potentially pathogenic duplications are more enriched for the larger size range (>500 kbp) while deletions begin to manifest enrichments at a smaller size range.…”

Section: Cnv Landscape Of Neuropsychiatric and Neurodevelopmental Conmentioning

confidence: 99%

The genetic variability and commonality of neurodevelopmental disease

Coe¹,

Girirajan²,

Eichler

2012

American J of Med Genetics Pt C

109

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Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent copy number variation (CNV), in particular, has emphasized the importance of either de novo or essentially private mutations creating imbalances for multiple genes. CNVs have foreshadowed a model where the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes.

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“…Genes in important developmental pathways are also covered by contigs of BACs to fill in the chromosome arms and provide higher resolution with an average gap size between contigs of ϳ1.6 Mb. 17 Microarray analysis was performed as described. 17 …”

Section: Microarray Analysismentioning

confidence: 99%

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

Adams

Coppinger

Saitta

et al. 2009

Genetics in Medicine

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Cited by 213 publications

References 15 publications

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype

The genetic variability and commonality of neurodevelopmental disease

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

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