{"id":1749,"date":"2022-09-18T15:53:00","date_gmt":"2022-09-18T12:53:00","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2022\/09\/18\/sluchai-na-kurmache-s-unikalna-za-regiona-na-bulgaria-mutacia-v-ighmbp2-gena\/"},"modified":"2025-05-21T16:06:05","modified_gmt":"2025-05-21T13:06:05","slug":"sluchai-na-kurmache-s-unikalna-za-regiona-na-bulgaria-mutacia-v-ighmbp2-gena","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2022\/09\/18\/sluchai-na-kurmache-s-unikalna-za-regiona-na-bulgaria-mutacia-v-ighmbp2-gena\/","title":{"rendered":"Case of an Infant with a Mutationin the IGHMBP2 gene Unique to the Region of Bulgaria, Leading to aSevere Clinical Manifestation of the Rare Disease Spinal Muscular Atrophywith Respiratory Distress Type 1"},"content":{"rendered":"\n\n\t\t
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S. Stoichkova, V. Simov, A. Banchev, D. Avdzhieva <\/h3>\n

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Abstract<\/h2>\n\n\n\n

The IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2)<\/em>  gene is located on the long arm of the  chromosome 11. The protein that it encodes can be found in every human cell and it\u2019s part of the ATP-dependent helicases involved in many key metabolic processes in the cell, especially in the cells of the \u03b1-motor neurons. Mutations in this gene can lead to rare degenerative neuro-muscular diseases -spinal muscular atrophy with respiratory distress type1 (SMARD1) and the clinically milder Charcot-Marie-Tooth type 2S (CMT2S). The typical clinical manifestations include dystal muscular hypotonia, difficulties with feeding, respiratory failure due to diaphragmatic palsy which usually develop in the period from 6 weeks to 6 months postnatal age.<\/p>\n\n\n\n

The case depicted in this article is one of an unusual and fulminant clinical presentation in an infant born from a consanguineous marriage who is a homozygous carrier of the c.780del (p.Gln260Hisfs*25) <\/em>mutation in the IGHMBP2 gene. This same mutation has been mentioned only once in the scientific literature regarding 2 siblings from a Bulgarian family.<\/em><\/p>\n\n\n\n

Key words:<\/strong> SMARD1, IGHMBP2, consanguineous marriage, mutation. atypical presentation<\/p>\n\n\n

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Bibliography<\/strong><\/h2>\n\n\n\n
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  1. Goknur Haliloglu. Other Motor Neuron Diseases. Nelson Textbook of pediatrics. 2020.Edition 21. Vol 2:3317-3320 <\/li>\n\n\n\n
  2. M.G.L. Perego, N. Galli, M. Nizzardo et al. Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1) \/ Cell. Mol. Life Sci. 2020 Sep;77(17):3351-3367<\/li>\n\n\n\n
  3. Ivan Litvinenko, MD, PhD, Andrey Ventsislavov Kirov, MSc, Ralitsa Georgieva, MD, PhD, Tihomir Todorov, PhD, Zornitsa Malinova, MD, PhD, Vanyo Mitev, MD, PhD, and Albena Todorova, PhD. One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth. J Child Neurol.2013. Vol. 29, 6:799-802<\/li>\n\n\n\n
  4. Calder\u00f3n-Rodr\u00edguez S, Cantar\u00edn Extremera V, Garc\u00eda-Teresa MA et al. Atrofia muscular espinal tipo 1 con distr\u00e9s respiratorio. Rev Neurol 2013; 56: 493-5<\/li>\n\n\n\n
  5. K. Grohmann, MD, R. Varon, PhD, P. Stolz, MD, et al. Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1). Ann Neurol 2003;54:719 \u2013724<\/li>\n\n\n\n
  6. Y.A. Kim, H.Y. Jin, Y. Kim. Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1. J Korean Med Sci. 2019 Mar 11;34(9):e54.<\/li>\n\n\n\n
  7. B. San Millan, J.M. Fernandez, C. Navarro, et al. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up. Clin Neuropathol, Vol. 35 \u2013 No. 2\/2016 , 58-65<\/li>\n<\/ol>\n\n\n
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    Address for correspondence:<\/strong><\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Department of Pediatrics, National Cardiology
    Hospital, Sofia
    Ilinden, 65, \u201cKoniovitza\u201d, Str.
    1309, Sofia
    Bulgaria
    e-mail:     sstoichkova12@gmail.com<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

    S. Stoichkova, V. Simov, A. Banchev, D. Avdzhieva<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_pediatria_doi":"","footnotes":""},"categories":[1301,1337],"tags":[2159,2160,2161,2162,1443,2097,2163,2164,2165,2166,2167,2168,2169],"class_list":["post-1749","post","type-post","status-publish","format-standard","hentry","category-articles","category-issue-3-2022","tag-smard1-en","tag-consanguineous-marriage-en","tag-ighmbp2-en","tag-smard1-2-en","tag-a-banchev-en","tag-v-simov-en","tag-vodestha-do-tezhka-klinichna-izyava-na-ryadkoto-zabolyavane-spinalna-muskulna-atrofiya-s-respiratoren-distres-tip-1-en","tag-d-avdzhieva-en","tag-kravnorodstven-brak-en","tag-mutacziya-en","tag-netipichna-izyava-en","tag-s-stoichkova-en","tag-sluchaj-na-karmache-s-unikalna-za-regiona-na-balgariya-mutacziya-v-ighmbp2-gena-en"],"_links":{"self":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1749","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/comments?post=1749"}],"version-history":[{"count":1,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1749\/revisions"}],"predecessor-version":[{"id":1751,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1749\/revisions\/1751"}],"wp:attachment":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/media?parent=1749"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/categories?post=1749"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/tags?post=1749"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}