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Keywords = Lopes–Maciel–Rodan syndrome

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7 pages, 441 KB  
Article
Description of the First Registered Case of Lopes–Maciel–Rodan Syndrome in Russia
by Yuliya S. Koshevaya, Aleksey V. Kusakin, Natalia V. Buchinskaia, Valentina V. Pechnikova, Elena A. Serebryakova, Alexander L. Koroteev, Andrey S. Glotov and Oleg S. Glotov
Int. J. Mol. Sci. 2022, 23(20), 12437; https://doi.org/10.3390/ijms232012437 - 18 Oct 2022
Cited by 2 | Viewed by 2954
Abstract
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 [...] Read more.
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. Full article
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