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"apellidos" => "Muñoz García" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0001651916300486" "doi" => "10.1016/j.otorri.2016.05.001" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0001651916300486?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173573517300467?idApp=UINPBA00004N" "url" => "/21735735/0000006800000003/v1_201705260048/S2173573517300467/v1_201705260048/en/main.assets" ] "en" => array:17 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Case study</span>" "titulo" => "Autosomal Dominant Auditory Neuropathy and Variant DIAPH3 (c.-173C>T)" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "183" "paginaFinal" => "185" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Ana Sánchez-Martínez, José I. Benito-Orejas, Juan J. Tellería-Orriols, María J. Alonso-Ramos" "autores" => array:4 [ 0 => array:3 [ "nombre" => "Ana" "apellidos" => "Sánchez-Martínez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:4 [ "nombre" => "José I." "apellidos" => "Benito-Orejas" "email" => array:1 [ 0 => "jibenito@ono.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 2 => array:3 [ "nombre" => "Juan J." "apellidos" => "Tellería-Orriols" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "María J." "apellidos" => "Alonso-Ramos" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Otorrinolaringología y Patología Cérvico-Facial, Hospital Clínico Universitario, Valladolid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Instituto de Biología y Genética Molecular, Universidad de Valladolid/CSIC, Valladolid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Neuropatía auditiva autosómica dominante y variante DIAPH3 (c.-173C>T)" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1033 "Ancho" => 3445 "Tamanyo" => 297093 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Family tree and hearing examination of the patient.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Clinical Case</span><p id="par0005" class="elsevierStylePara elsevierViewall">We present a family that has 5 members: the parents (II2, II3) and 3 children (1 male [III3] and 2 females [III2], index case and [III4]), 41, 44 and 43 years old, respectively). Of these, the father (II2), the son (III3) and one of the daughters (III2) have poor hearing. There is a family history of other cases of deafness (I1, II1) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">The 44-year-old daughter came to our service. She had started to notice hearing loss in the right ear (RE) when she was approximately 21 years old, stemming from a plane trip; tinnitus also appeared at that, persisting at present. The problems became worse a few years later, and she was diagnosed at another centre with bilateral auditory neuropathy. A hearing aid in the RE was recommended at that time, but she does not use it because it bothers her. When we saw her, she also reported the appearance of tinnitus in the left ear (LE) and the feeling that she “hears but does not understand”.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Normal results from otoscopy examination. Pure tone audiometry showed a bilateral, approximately symmetric fall towards high tones, with periodic auditory fluctuations. Normal tympanogram, lacking stapedius reflexes. Maximum verbal discrimination was 60%. The electrophysiological study revealed the presence of bilateral auditory neuropathy, with normal otoacoustic emissions (OAE) and complete disruption of the brainstem auditory evoked potentials (BAEP) (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Normal magnetic resonance imaging study results, and the genetic analysis showed an alteration in the DIAPH3 gene.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The clinical condition of the father and the brother was similar, with progressive bilateral deafness from the age of 20 years. The father presented only auditory remnants in the audiometry and no OAEs were registered. The brother showed bilateral sensorineural deafness, similar in morphology to that of the sister, with the presence of OAE and less disrupted BAEP. The unaffected sister had totally normal auditory examination results.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The genetic alteration found in our patient was the same one found in the other affected family members (father and brother); this alteration did not exist in the normally hearing mother and sister.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Discussion</span><p id="par0030" class="elsevierStylePara elsevierViewall">Auditory dyssynchrony or neuropathy (AN) is a type of sensorineural deafness (SND) in which the function of the external ciliated cells (ECC) in the cochlea is normal, but that of the internal ciliated cells, their synapsis with the auditory nerve or that of the auditory nerve itself is altered.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">1</span></a> Prevalence is approximately 5% of all childhood SND.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">2</span></a> It is characterised clinically by a loss of hearing that varies in level, but there is generally great difficulty in understanding speech, above all in noisy surroundings. Examination results are characteristic, given that it is a SND in which there are OAEs (the reflection of normal ECC functioning) and the nerve conduction through the auditory pathway (examined using BAEPs) is altered or lacking.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">3</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The patients are extremely heterogeneous with respect to aetiology, age and clinical signs and symptoms. The origin of AN can be acquired or congenital. Among the acquired causes (10% of all the AN cases), premature birth, hyperbilirubinemia, hypoxia, congenital brain anomalies, ototoxicity and demyelinating diseases such as multiple sclerosis are especially notable. However, congenital AN is generally produced by isolated (non-syndromic) genetic anomalies (40%), associated with other syndromes (Charcot-Marie-Tooth, Friedreich ataxia, Refsum disease, etc.) or of mitochondrial inheritance with other anomalies. In 48% of the cases, the AN is of unknown origin.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">Non-syndromic AN is usually autosomal recessive. It is fundamentally through mutations in the OTOF gene (especially prevalent in Spain<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">5</span></a>) and, to a lesser degree, in the Pejvakin (PJVK) gene. Some cases of recessive inheritance linked to the X chromosome (AUNX1) have also been described.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">However, the family presented in this clinical case shows a pattern of autosomal dominant inheritance, affecting at least 3 consecutive generations (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Kim et al. (2004) were the first ones to recognise this type of genetic alteration, called AUNA1 (autosomal dominant auditory neuropathy-1),<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">6</span></a> located on Chromosome 13q21.2. In 2010, Schoen et al.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> reported the mutation c.-172G>A in the regulatory region of the DIAPH3 gene, causing an increase in its genetic expression (genotype MIM: <a href="omim:614567">614567</a>), which usually coincides with a dominant inheritance pattern. The genetic study using polymerase chain reaction (PCR) and direct sequencing of the 5’ UTR region of the DIAPH3 gene has allowed us to identify, in all the family members affected, the presence of the heterozygous c.-173C>T variant, located in the regulatory region of DIAPH3 (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>) and alongside the one referenced by Schoen et al.<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">7</span></a> The substitution, which has not previously been described, affects the central position cytosine (GGCGGG) that remains highly conserved in the GC box consensus sequence to which the Sp1- and Krüppel-like transcription factors are linked.<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">8,9</span></a> Although their causal role cannot be confirmed, the location of the mutation described and the fact that it co-segregates in all the affected members of the family are very suggestive of their potential pathogenicity.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of Interests</span><p id="par0050" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Clinical Case" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Discussion" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflict of Interests" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2016-04-16" "fechaAceptado" => "2016-06-14" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Sánchez-Martínez A, Benito-Orejas JI, Tellería-Orriols JJ, Alonso-Ramos MJ. Neuropatía auditiva autosómica dominante y variante DIAPH3 (c.-173C>T). Acta Otorrinolaringol Esp. 2017;68:183–185.</p>" ] ] "multimedia" => array:2 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1033 "Ancho" => 3445 "Tamanyo" => 297093 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Family tree and hearing examination of the patient.</p>" ] ] 1 => array:7 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 900 "Ancho" => 1543 "Tamanyo" => 127104 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Electropherogram of the DIAPH3 fragment with the c.173C>T alteration in the regulatory region.</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" => "Auditory neuropathy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "A. 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Journal Information
Vol. 68. Issue 3.
Pages 183-185 (May - June 2017)
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Vol. 68. Issue 3.
Pages 183-185 (May - June 2017)
Case study
Autosomal Dominant Auditory Neuropathy and Variant DIAPH3 (c.-173C>T)
Neuropatía auditiva autosómica dominante y variante DIAPH3 (c.-173C>T)
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