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Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia

Lopes–Maciel–Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to ach...

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Autores principales: Koshevaya, Yuliya S., Kusakin, Aleksey V., Buchinskaia, Natalia V., Pechnikova, Valentina V., Serebryakova, Elena A., Koroteev, Alexander L., Glotov, Andrey S., Glotov, Oleg S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604141/
https://www.ncbi.nlm.nih.gov/pubmed/36293294
http://dx.doi.org/10.3390/ijms232012437
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author Koshevaya, Yuliya S.
Kusakin, Aleksey V.
Buchinskaia, Natalia V.
Pechnikova, Valentina V.
Serebryakova, Elena A.
Koroteev, Alexander L.
Glotov, Andrey S.
Glotov, Oleg S.
author_facet Koshevaya, Yuliya S.
Kusakin, Aleksey V.
Buchinskaia, Natalia V.
Pechnikova, Valentina V.
Serebryakova, Elena A.
Koroteev, Alexander L.
Glotov, Andrey S.
Glotov, Oleg S.
author_sort Koshevaya, Yuliya S.
collection PubMed
description Lopes–Maciel–Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to achieve a definitive molecular diagnosis of the disorder. All NGS-identified variants underwent the Sanger confirmation. In addition, a literature review on genetic variations in the HTT gene was conducted. The paper reports a case of LOMARS in a pediatric patient in Russia. A preterm girl of non-consanguineous parents demonstrated severe psychomotor developmental delays in her first 12 months. By the age of 6 years, she failed to develop speech but was able to understand everyday phrases and perform simple commands. Autism-like behaviors, stereotypies, and bruxism were noted during the examination. WES revealed two undescribed variants of unknown clinical significance in the HTT gene, presumably associated with the patient’s phenotype (c.2350C>T and c.8440C>A). Medical re-examination of parents revealed that the patient inherited these variants from her father and mother. Lopes–Maciel–Rodan syndrome was diagnosed based on overlapping clinical findings and the follow-up genetic examination of parents. Our finding expands the number of reported LOMARS cases and provides new insights into the genetic basis of the disease.
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spelling pubmed-96041412022-10-27 Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia Koshevaya, Yuliya S. Kusakin, Aleksey V. Buchinskaia, Natalia V. Pechnikova, Valentina V. Serebryakova, Elena A. Koroteev, Alexander L. Glotov, Andrey S. Glotov, Oleg S. Int J Mol Sci Article Lopes–Maciel–Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to achieve a definitive molecular diagnosis of the disorder. All NGS-identified variants underwent the Sanger confirmation. In addition, a literature review on genetic variations in the HTT gene was conducted. The paper reports a case of LOMARS in a pediatric patient in Russia. A preterm girl of non-consanguineous parents demonstrated severe psychomotor developmental delays in her first 12 months. By the age of 6 years, she failed to develop speech but was able to understand everyday phrases and perform simple commands. Autism-like behaviors, stereotypies, and bruxism were noted during the examination. WES revealed two undescribed variants of unknown clinical significance in the HTT gene, presumably associated with the patient’s phenotype (c.2350C>T and c.8440C>A). Medical re-examination of parents revealed that the patient inherited these variants from her father and mother. Lopes–Maciel–Rodan syndrome was diagnosed based on overlapping clinical findings and the follow-up genetic examination of parents. Our finding expands the number of reported LOMARS cases and provides new insights into the genetic basis of the disease. MDPI 2022-10-18 /pmc/articles/PMC9604141/ /pubmed/36293294 http://dx.doi.org/10.3390/ijms232012437 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Koshevaya, Yuliya S.
Kusakin, Aleksey V.
Buchinskaia, Natalia V.
Pechnikova, Valentina V.
Serebryakova, Elena A.
Koroteev, Alexander L.
Glotov, Andrey S.
Glotov, Oleg S.
Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
title Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
title_full Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
title_fullStr Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
title_full_unstemmed Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
title_short Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
title_sort description of the first registered case of lopes–maciel–rodan syndrome in russia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9604141/
https://www.ncbi.nlm.nih.gov/pubmed/36293294
http://dx.doi.org/10.3390/ijms232012437
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