RESEARCH LETTER Partial AFF2 Microduplication in A Patient With Auditory Processing Disorder, Emotional Impairment and Macrosomia Naiara Braz da Rocha, 1 Pollyanna Almeida Costa dos Santos, 1 Heloisa Pires Netto Safatle, 2 Reneide Maria de Melo, 3 Rinaldo Wellerson Pereira, 4 Silviene Fabiana de Oliveira, 5,6 Aline Pic-Taylor, 5 Iris Ferrari, 2,5 and Juliana Forte Mazzeu 1,4 * 1 Programa de Po ´s-graduac ¸a ˜o em Cie ˆncias da Sau ´de, Universidade de Brası ´lia, DF, Brazil 2 Hospital Universita ´rio, Universidade de Brası ´lia, Brası ´lia, DF, Brazil 3 CIAPE, Gama, DF, Brazil 4 Programa de Po ´s-Graduac ¸a ˜o em Cie ˆncias Geno ˆmicas e Biotecnologia, Universidade Cato ´lica de Brası ´lia, Brası ´lia, DF, Brazil 5 Laborato ´rio de Gene ´tica, Departamento de Gene ´tica e Morfologia, Instituto de Cie ˆncias Biolo ´gicas. Universidade de Brası ´lia, Brası ´lia, DF, Brazil 6 Jackson Laboratory for Genomic Medicine, Farmington, Connecticut Manuscript Received: 18 February 2014; Manuscript Accepted: 8 August 2014 The AFF2 gene (OMIM 300806) maps to Xq28 and is highly expressed in regions of the human brain involved with learning, cognition, and memory. It is highly expressed in the hippocampus and amygdala [Chakrabarti et al., 1998]. Murine AFF2 has 88% amino acid similarity with human AFF2 and in situ hybridization carried out in brains of adult mice showed labeling in the cingulate gyrus, hippocampus, piriform cortex, and Purkinge layers [Chak- rabarti et al., 1996]. AFF2 CCG trinucleotide expansion causes a form of X-linked intellectual disability (ID) related to Fragile site E (FRAXE) at Xq28. The number of CCG repeats in normal individuals varies from 6 to 20 repeats, and up to 200 in affected individuals. The clinical presentation is variable and may include mild intellectual disability, learning disabilities, communication deficits, attention deficit hyperactivity disorder (ADHD), and autistic spectrum [Abrams et al., 1997]. Structural variations in this gene are rare. Translocations disrupting AFF2, partial or entire deletions and partial duplication have been described in patients with ID. Partial AFF2 deletions, especially smaller deletions, are usually associated with a milder phenotype [Ge ´cz et al., 1997; Sahoo et al., 2011; Stettner et al., 2011] or autism, whereas complete loss of gene function causes FRAXE [Gecz et al., 1996]. A partial AFF2 duplication was reported once in association with mild ID [Whibley et al., 2010]. Here we report on a patient with a partial AFF2 microdupli- cation detected by Multiplex Ligation-dependent Probe Amplifi- cation (MLPA) and confirmed by chromosomal microarray analysis. The proband was a 12-year-old male child of healthy nonconsan- guineous parents. He has two half-brothers on the paternal side. The mother and father were 24 and 44 years old, respectively, at time of conception. The mother experienced a previous spontaneous mis- carriage. During pregnancy, the mother reported anxiety and early fetal movement. Birth was by Cesarean delivery at term with a weight of 3,650 g (75th centile), length of 51 cm (50th centile) and OFC of 37.2 cm (98th centile). He sat at six months, crawled at seven months and walked at 12 months. At the age of three he exhibited behavioral difficulties, poor interpersonal relationships with other children and adults, and was aggressive. He was literate at the age of six with supplementary individual assistance. He was immature and easily How to Cite this Article: da Rocha NB, dos Santos PAC, Safatle HPN, de Melo RM, Pereira RW, Oliveira S, Pic-Taylor A, Ferrari I, Mazzeu JF. 2014. Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia. Am J Med Genet Part A 164A:3206–3208. Conflict of interest: none Grant sponsor: FAPDF-DF; Grant sponsor: CNPq; Grant sponsor: CAPES. Ã Correspondence to: Juliana Forte Mazzeu de Arau ´ jo Universidade Cato ´lica de Brası´lia, Programa de Po ´ s-graduac ¸a ˜o em Cie ˆncias Geno ˆ micas e Biotecnologia, Brası´lia, DF, Brazil. E-mail: julianamazzeu@yahoo.com Article first published online in Wiley Online Library (wileyonlinelibrary.com): 24 September 2014 DOI 10.1002/ajmg.a.36768 Ó 2014 Wiley Periodicals, Inc. 3206