Letter to the Editor
Molecular Detection of the Frequent Allele F52del in Alpha 1 Antitrypsin Deficiency
Detección molecular del alelo F52del frecuente en la deficiencia de alfa-1-antitripsina
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Forty two patients with AAT values <100<span class="elsevierStyleHsp" style=""></span>mg/dL and with an inconclusive result in the genotype for PI*S and PI*Z underwent complete sequencing of the SERPINA1 gene. Of the 42 patients studied, at least one infrequent deficient allele was detected in 90.4% of the cases (38 patients). The most common deficient variant was Mmalton allele (64.2%), followed by Mpalermo allele (16.6%), both caused by the F52del mutation (<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>).</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">The Mmalton and Mpalermo are two rare variants characterized by an F52del (c.226_228delTTC) mutation. While the Mmalton allele must have derived from the normal M2 allele, Mpalermo derives from the normal M1V.<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">4,5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">In our population, Mpalermo represents 1 in 5 individuals with the F52del mutation, and although the use of specific probes for the detection of this mutation seems to be a good diagnostic strategy, it should be used as screening, since that in our opinion it is necessary to perform the complete sequencing of SERPINA1 in all cases to make a more accurate diagnosis of these variants, being necessary to confirm the presence of the base allele M2 or M1V in cis in these patients.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at1" "detalle" => "Table " "rol" => "short" ] ] "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">Genotype \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"><span class="elsevierStyleItalic">N</span> \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">% \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">PI*M/Mmalton \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">17 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">40.4 \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">PI*S/Mmalton \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">7 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">16.6 \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">PI*Z/Mmalton \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2.4 \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">PI*Mmalton/Mmalton \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">4.8 \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">PI*M/Mpalermo \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">6 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">14.3 \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">PI*S/Mpalermo \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2.4 \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">PI*M/Q0amersfoort \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2.4 \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">PI*Z/Q0amersfoort \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2.4 \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">PI*Z/Q0cardiff \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2.4 \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">PI*MI \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">2.4 \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">No deficitary allele \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">4 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">9.5 \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td" title="table-entry " colspan="3" align="left" valign="top"><span class="elsevierStyleVsp" style="height:0.5px"></span></td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Overall \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">42 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="table-entry " align="char" valign="top">100 \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab1720590.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Genotypes of Subjects with Rare Deficiency Alleles.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "I. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 3 | 2 | 5 |
| 2024 October | 48 | 26 | 74 |
| 2024 September | 43 | 20 | 63 |
| 2024 August | 58 | 43 | 101 |
| 2024 July | 42 | 16 | 58 |
| 2024 June | 76 | 25 | 101 |
| 2024 May | 72 | 23 | 95 |
| 2024 April | 40 | 21 | 61 |
| 2024 March | 52 | 22 | 74 |
| 2024 February | 52 | 19 | 71 |
| 2023 December | 0 | 2 | 2 |
| 2023 September | 0 | 5 | 5 |
| 2023 August | 0 | 1 | 1 |
| 2023 May | 0 | 5 | 5 |
| 2023 April | 0 | 1 | 1 |
| 2023 March | 17 | 8 | 25 |
| 2023 February | 57 | 15 | 72 |
| 2023 January | 38 | 26 | 64 |
| 2022 December | 67 | 43 | 110 |
| 2022 November | 77 | 23 | 100 |
| 2022 October | 73 | 36 | 109 |
| 2022 September | 48 | 28 | 76 |
| 2022 August | 50 | 41 | 91 |
| 2022 July | 40 | 44 | 84 |
| 2022 June | 52 | 37 | 89 |
| 2022 May | 60 | 41 | 101 |
| 2022 April | 76 | 37 | 113 |
| 2022 March | 75 | 38 | 113 |
| 2022 February | 72 | 40 | 112 |
| 2022 January | 67 | 36 | 103 |
| 2021 December | 42 | 36 | 78 |
| 2021 November | 45 | 45 | 90 |
| 2021 October | 50 | 50 | 100 |
| 2021 September | 51 | 52 | 103 |
| 2021 August | 26 | 42 | 68 |
| 2021 July | 40 | 35 | 75 |
| 2021 June | 31 | 43 | 74 |
| 2021 May | 44 | 47 | 91 |
| 2021 April | 104 | 128 | 232 |
| 2021 March | 49 | 33 | 82 |
| 2021 February | 48 | 36 | 84 |
| 2021 January | 64 | 30 | 94 |
| 2020 December | 38 | 27 | 65 |
| 2020 November | 48 | 23 | 71 |
| 2020 October | 50 | 23 | 73 |
| 2020 September | 35 | 17 | 52 |
| 2020 August | 45 | 23 | 68 |
| 2020 July | 45 | 36 | 81 |
| 2020 June | 27 | 18 | 45 |
| 2020 May | 40 | 30 | 70 |
| 2020 April | 38 | 25 | 63 |
| 2020 March | 22 | 18 | 40 |
| 2020 February | 39 | 35 | 74 |
| 2020 January | 45 | 22 | 67 |
| 2019 December | 27 | 14 | 41 |
| 2019 November | 32 | 31 | 63 |
| 2019 October | 20 | 20 | 40 |
| 2019 September | 28 | 22 | 50 |
| 2019 August | 28 | 26 | 54 |
| 2019 July | 46 | 38 | 84 |
| 2019 June | 30 | 33 | 63 |
| 2019 May | 44 | 43 | 87 |
| 2019 April | 30 | 50 | 80 |
| 2019 March | 53 | 44 | 97 |
| 2019 February | 39 | 45 | 84 |
| 2019 January | 42 | 36 | 78 |
| 2018 December | 70 | 43 | 113 |
| 2018 November | 56 | 40 | 96 |
| 2018 October | 82 | 44 | 126 |
| 2018 September | 9 | 2 | 11 |
| 2018 May | 1 | 1 | 2 |
| 2018 April | 11 | 4 | 15 |
| 2017 December | 0 | 3 | 3 |
Show all
