Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation

Abstract We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, mi...

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Bibliographic Details
Published in:European journal of medical genetics 2012-12, Vol.55 (12), p.747-752
Main Authors: Mattina, Teresa, Palumbo, Orazio, Stallone, Raffaella, Pulvirenti, Rita Maria, Di Dio, Laura, Pavone, Piero, Carella, Massimo, Pavone, Lorenzo
Format: Article
Language:English
Subjects:
16p13.3 microduplication
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Child
Chromosome Banding
Chromosome Duplication
Chromosomes, Human, Pair 16
CREBBP
Facies
Foot Deformities, Congenital - diagnostic imaging
Foot Deformities, Congenital - genetics
Genetic Association Studies
Genome-Wide Association Study
Hand Deformities, Congenital - diagnostic imaging
Hand Deformities, Congenital - genetics
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
Medical Education
Phenotype
Polymorphism, Single Nucleotide
Radiography
Smallest region of overlap
SNP array analysis
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Summary:Abstract We report on a patient with a recognizable phenotype of intellectual disability, multiple congenital anomalies, musculoskeletal anomalies and craniofacial dysmorphisms, carrying a de novo 0.4 Mb duplication of chromosome region 16p13.3 detected by SNP-array analysis. In addition, myopia, microcephaly and growth retardation were observed. The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene ( CREBBP , MIM 600140 ), whose haploinsufficiency is responsible for the Rubinstein–Taybi syndrome, and the adenylate cyclase 9 gene ( ADCY9 , MIM 603302 ). By comparing the clinical manifestations of our patient with those of patients carrying similar rearrangements, we confirmed that 16p13.3 microduplications of the Rubinstein–Taybi region result in a recognizable clinical condition that likely represents a single gene disorder. In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.09.006