Letter to the Editor
Neurological dysfunction and 15q11.2 microdeletion: Report of a new case
Nuevo caso de disfunción neurológica y microdeleción 15q11.2
José Diego Santotoribioa,
, Manuel Vicente Salinas-Martínb, Paula Batalha-Caetanoc
Corresponding author
a Unidad de Gestión Clínica de Laboratorios Clínicos, Hospital Universitario Puerto Real, Puerto Real, Cádiz, Spain
b Unidad de Gestión Clínica de Anatomía Patológica, Hospital Juan Ramón Jiménez, Huelva, Spain
c Unidad de Gestión Clínica de Uro-Nefrología, Hospital Universitario Virgen del Rocío, Sevilla, Spain
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The most commonly used technique to study the human genome is the constitutional karyotype that reveals the chromosome number and structure. The constitutional karyotype can detect large duplications and/or deletions. Using new diagnostic techniques such as <span class="elsevierStyleItalic">array-based comparative genomic hybridization</span> (<span class="elsevierStyleItalic">array</span>-CGH), the entire human genome was analyzed in order to detect gains and losses of genetic material associated with microdeletion and/or microduplication syndromes.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Chromosomal analysis by <span class="elsevierStyleItalic">array</span>-CGH allows to detect chromosomal abnormalities that would be imperceptible to the constitutional karyotype.</p><p id="par0010" class="elsevierStylePara elsevierViewall">We present a case of a 2-year-old with neurological dysfunction who manifested maturational delay and marked hypotonia. The constitutional karyotype and the Prader-Willi genetic study were negative. Chromosome analysis was performed by <span class="elsevierStyleItalic">array</span>-CGH, using the <span class="elsevierStyleItalic">SurePrint G3 Human CGH Microarray 400K</span> (Agilent Technologies), with an average spacing between probes of 5.3 and 4.6<span class="elsevierStyleHsp" style=""></span>kb for RefSeq genes. The <span class="elsevierStyleItalic">microarray</span> reading was performed with the <span class="elsevierStyleItalic">Microarray Scanner G2565CA</span> (Agilent Technologies) at a 3<span class="elsevierStyleHsp" style=""></span>μm resolution, and the analysis of the results was carried out with the <span class="elsevierStyleItalic">CytoGenomics v. 2.0.6.0</span> (Agilent Technologies) software.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The results showed a genomic male pattern consistent with the formula: arr (1-22) x2, (XY) x1 (ISCN, 2009). 3 previously unknown copy number changes were detected (of undetermined significance), and the heterozygous microdeletion on chromosome 15, between breakpoints BP1 and BP2, the cytoband 15q11.2 and genomic coordinates chr15: 18692865-20308073, which includes the deletion of genes <span class="elsevierStyleItalic">GOLGA6L6</span>, <span class="elsevierStyleItalic">GOLGA8C</span>, <span class="elsevierStyleItalic">BCL8</span>, <span class="elsevierStyleItalic">LOC646214</span>, <span class="elsevierStyleItalic">CXADRP2</span>, <span class="elsevierStyleItalic">POTEB</span>, <span class="elsevierStyleItalic">NF1P1</span>, <span class="elsevierStyleItalic">LOC727924</span>, <span class="elsevierStyleItalic">OR4M2</span>, <span class="elsevierStyleItalic">OR4N4</span>, <span class="elsevierStyleItalic">OR4N3P</span>, <span class="elsevierStyleItalic">LOC646396</span>, <span class="elsevierStyleItalic">GOLGA8DP</span>, <span class="elsevierStyleItalic">GOLGA6L1</span> (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>).</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Although there are only a few case reports of patients with 15q11.2 microdeletion (BP1-BP2), recent studies<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">2,3</span></a> propose that this area is a genomic region susceptible to neurological dysfunction, including alterations in the motor development, language retardation, behavioural disorders, autistic traits, hyperactivity disorder with attention deficit, seizures and mild dysmorphic features, leading to a possible new 15q11.2 microdeletion syndrome, which could be associated with the patient's clinical history.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Other studies also included proximal oesophageal atresia, distal tracheoesophageal fistula and congenital cataracts within the phenotypic spectrum of the 15q11.2 microdeletion syndrome.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">4,5</span></a> Furthermore, 15q11.2 microdeletion has been linked to generalized idiopathic epilepsy,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> schizophrenia,<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> Alzheimer's disease<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">8</span></a> and congenital heart disease.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">9</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">This case provides further evidence of neurological dysfunction by 15q11.2 microdeletion and shows the importance of <span class="elsevierStyleItalic">array</span>-CGH to detect the presence of microdeletions and/or microduplications that would be undetectable with conventional cytogenetic techniques. With this new technique, and due to its high resolving power, the diagnosis of these diseases has increased, a number of new syndromes have been defined and the knowledge of certain pathogenic mechanisms in medical genetics has been improved.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Santotoribio JD, Salinas-Martín MV, Batalha-Caetano P. Nuevo caso de disfunción neurológica y microdeleción 15q11.2. Endocrinol Nutr. 2015;145:371–372.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Type \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Zygosity \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Cytoband \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">NCBI36 genomic coordinates (hg18) \t\t\t\t\t\t\n \t\t\t\t</th><th class="td" title="table-head " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Size (Mb) \t\t\t\t\t\t\n \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">7q34 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr7:141396899-141438563 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0.042 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">13q31.1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr13:83439851-83525624 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0.086 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top"><span class="elsevierStyleBold">Deletion</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top"><span class="elsevierStyleBold">Heterozygosity</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top"><span class="elsevierStyleBold">15q11.2</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top"><span class="elsevierStyleBold">chr15:18692865-20308073</span> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top"><span class="elsevierStyleBold">1.615</span> \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Deletion \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">Heterozygosity \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">16p13.3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="left" valign="top">chr16:2589724-2638702 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">0.049 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1026529.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Copy number changes detected by comparative genomic hybridization on <span class="elsevierStyleItalic">arrays</span>.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:9 [ 0 => array:3 [ "identificador" => "bib0050" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Localización cromosómica de duplicaciones submicroscópicas en pacientes con trastornos del neurodesarrollo para identificar casos con alto riesgo de recurrencia familiar" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. 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