Letter to the Editor
De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment
Mutación de novo en KAT6B, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje
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Fernández-Mayoralas, B. Calleja-Pérez, S. Álvarez, A. Fernández-Jaén" "autores" => array:4 [ 0 => array:3 [ "nombre" => "D.M." "apellidos" => "Fernández-Mayoralas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "B." "apellidos" => "Calleja-Pérez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "S." "apellidos" => "Álvarez" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 3 => array:4 [ "nombre" => "A." "apellidos" => "Fernández-Jaén" "email" => array:1 [ 0 => "aferjaen@telefonica.net" ] "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 2 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:4 [ 0 => array:3 [ "entidad" => "Departamento de Neuropediatría, Hospital Universitario Quirónsalud, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Atención Primaria, Centro de Salud Doctor Cirajas, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Genómica y Medicina, NIMGenetics, Madrid, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Facultad de Medicina, Universidad Europea de Madrid, Villaviciosa de Odón, Madrid, Spain" "etiqueta" => "d" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Mutación <span class="elsevierStyleItalic">de novo</span> en <span class="elsevierStyleItalic">KAT6B</span>, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1609 "Ancho" => 1239 "Tamanyo" => 285317 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A and B) Facial features: blepharophimosis, ptosis, hypertelorism, bulbous nose, and mild retrognathia. C) Limitations in thumb abduction. D) Long toes in both feet.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">The histone acetyltransferase KAT6B is a component of the MOZ/MORF protein complex of epigenetic readers. The protein participates in both transcriptional activation and repression, and is involved in the development of the cerebral cortex.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a> As with other genes responsible for chromatin regulation, <span class="elsevierStyleItalic">KAT6B</span> dysfunction causes a multisystem developmental disorder.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Some of the disorders known to be linked to the <span class="elsevierStyleItalic">KAT6B</span> gene include genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as the Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,3–8</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">We describe the case of a boy with a de novo <span class="elsevierStyleItalic">KAT6B</span> mutation presenting a phenotype compatible with SBBYSS, without intellectual disability but with specific language impairment and severe attentional disorder.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The patient was an 8.5-year-old boy, an only child born to healthy parents of Spanish origin. The patient was brought to our centre due to severe learning difficulties, language problems, and attentional disorder; he did not present restricted interests or stereotypies, and displayed marked social interest. The patient displayed poor vocabulary, and made significant grammatical errors. He had no relevant family history. He was born after a normal pregnancy and delivery, with a birth weight of 2970 g (10th percentile) and a birth length of 49 cm (25th percentile). The patient had undergone surgery due to hypospadias and cryptorchidism. He presented severe language delay, using very few words at the age of 3 years. Motor development was normal, and the patient had started walking at 14 months of age. At the age of 6 years, a neuropsychological evaluation (WPPSI-III) revealed a verbal intelligence quotient (IQ) of 58 (percentile 0.3) (comprehension subtest, with a typical score of 1), and a manipulative IQ of 93 (33rd percentile); total IQ could not be calculated due to the difference between scales.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The physical examination detected no focal neurological signs, although the patient displayed severe language impairment (poor vocabulary and comprehension). He weighed 38 kg and was 140 cm tall (97th percentile). He also presented several dysmorphic features: blepharophimosis, ptosis, hypertelorism, bulbous nose, mild retrognathia, limited ability to separate the fingers in both hands, mild limitations on complete extension of the knees, and long toes on both feet (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">Array testing and sequencing of the <span class="elsevierStyleItalic">PTEN</span> and <span class="elsevierStyleItalic">NSD1</span> genes yielded normal findings. A brain MRI scan showed no abnormalities.</p><p id="par0035" class="elsevierStylePara elsevierViewall">A neuropsychological evaluation revealed IQ scores of 108 and 102 in the TONI-2 and Leiter-R scales, respectively. Language assessment (ITPA, Peabody, and BLOC-R) revealed a psycholinguistic age of 6 years. The continuous performance test revealed severe attentional disorder (omissions and Hit reaction time variability above the 95th percentile).</p><p id="par0040" class="elsevierStylePara elsevierViewall">At the age of 10 years, the patient and his parents underwent exome sequencing, which identified a de novo nonsense mutation in exon 16 of the <span class="elsevierStyleItalic">KAT6B</span> gene (hg19; chr 10: 76781739; NM_012330.3; c.3122C > A, p.Ser1041*). The mutation, which was subsequently confirmed by Sanger sequencing, was not listed on any genetic database and had not previously been reported in the literature.</p><p id="par0045" class="elsevierStylePara elsevierViewall">Subsequent cardiac and thyroid status examinations revealed no significant alterations.</p><p id="par0050" class="elsevierStylePara elsevierViewall">Our patient’s clinical phenotype is similar to those previously described in the literature. SBBYSS is a rare syndrome characterised by blepharophimosis and intellectual disability.<a class="elsevierStyleCrossRefs" href="#bib0015"><span class="elsevierStyleSup">3–8</span></a> All the cases reported in the literature to date were associated with severe cognitive disorders. Patients with SBBYSS frequently present other abnormal features or malformations, including hypomimia, bulbous nose, bone and ligament alterations, and long toes.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">Mutations in the <span class="elsevierStyleItalic">KAT6B</span> gene have been linked to genitopatellar syndrome and SBBYSS. These syndromes probably lie on a continuum of developmental disorders, with mutations located in the last exons being associated with clinical profiles more similar to that of SBBYSS.<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5,9</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">Ours is the first reported case of a patient with SBBYSS without intellectual disability, and presenting a novel mutation. This case suggests an association between neurodevelopmental disorders and mutations in genes classically linked to intellectual disability and autism.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> Genetic studies should be considered in the diagnosis of patients with severe language impairment.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors have received no funding for this study.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2019-01-04" "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Fernández-Mayoralas DM, Calleja-Pérez B, Álvarez S, Fernández-Jaén A. Mutación <span class="elsevierStyleItalic">de novo</span> en <span class="elsevierStyleItalic">KAT6B</span>, síndrome Say-Barber-Biesecker-Young-Simpson y trastorno específico del lenguaje. Neurología. 2020;35:601–603.</p>" ] ] "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1609 "Ancho" => 1239 "Tamanyo" => 285317 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">A and B) Facial features: blepharophimosis, ptosis, hypertelorism, bulbous nose, and mild retrognathia. C) Limitations in thumb abduction. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 5 | 2 | 7 |
| 2024 October | 46 | 8 | 54 |
| 2024 September | 49 | 6 | 55 |
| 2024 August | 32 | 6 | 38 |
| 2024 July | 39 | 8 | 47 |
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| 2024 May | 26 | 6 | 32 |
| 2024 April | 29 | 4 | 33 |
| 2024 March | 34 | 4 | 38 |
| 2024 February | 61 | 4 | 65 |
| 2024 January | 42 | 5 | 47 |
| 2023 December | 76 | 13 | 89 |
| 2023 November | 80 | 12 | 92 |
| 2023 October | 127 | 11 | 138 |
| 2023 September | 74 | 8 | 82 |
| 2023 August | 65 | 7 | 72 |
| 2023 July | 45 | 3 | 48 |
| 2023 June | 82 | 14 | 96 |
| 2023 May | 110 | 28 | 138 |
| 2023 April | 106 | 13 | 119 |
| 2023 March | 109 | 10 | 119 |
| 2023 February | 81 | 6 | 87 |
| 2023 January | 88 | 7 | 95 |
| 2022 December | 62 | 8 | 70 |
| 2022 November | 62 | 12 | 74 |
| 2022 October | 63 | 13 | 76 |
| 2022 September | 63 | 14 | 77 |
| 2022 August | 81 | 23 | 104 |
| 2022 July | 41 | 15 | 56 |
| 2022 June | 63 | 15 | 78 |
| 2022 May | 55 | 9 | 64 |
| 2022 April | 39 | 16 | 55 |
| 2022 March | 91 | 14 | 105 |
| 2022 February | 79 | 5 | 84 |
| 2022 January | 139 | 8 | 147 |
| 2021 December | 61 | 16 | 77 |
| 2021 November | 66 | 13 | 79 |
| 2021 October | 46 | 15 | 61 |
| 2021 September | 44 | 14 | 58 |
| 2021 August | 73 | 7 | 80 |
| 2021 July | 37 | 12 | 49 |
| 2021 June | 31 | 15 | 46 |
| 2021 May | 75 | 9 | 84 |
| 2021 April | 131 | 20 | 151 |
| 2021 March | 106 | 9 | 115 |
| 2021 February | 95 | 13 | 108 |
| 2021 January | 86 | 10 | 96 |
| 2020 December | 40 | 16 | 56 |
| 2020 November | 18 | 9 | 27 |
| 2020 October | 28 | 11 | 39 |
| 2020 September | 0 | 5 | 5 |
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