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Batsaikhan, Tserendulam

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Товч нэр
Batsaikhan, Tserendulam
Бүтэн нэр
Batsaikhan Tserendulam
Латин нэр
Batsaikhan Tserendulam
Албан тушаал
Судлаач
Харьяалал

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    Аксенфельд-Ригерийн хам шинж (Axenfeld Rieger Syndrome)
    (2022-11-01)
    Б.Цэрэндулам
    ;
    Г.Мөнхтуяа
    Удиртгал: Аксенфельд-Ригерийн хам шинж (ARS) нь нүд, нүүр, шүд, хэвлийн хөндийн эмгэгээр тодорхойлогддог нэн ховор аутосомын давамгайлсан эмгэг юм. Аксенфельд-Ригерийн хам шинж (ARS) нь дэлхий даяар 1:200.000 давтамжтай аутосомын давамгайлсан нэн ховор өвчин бөгөөд нүд, нүүр, шүд, хэвлий орчмын эмгэгүүдээр тодорхойлогддог генетикийн эмгэгийг хамардаг. Өвчтөний тухай мэдээлэл: 3 настай эрэгтэй 21 настай эхийн анхны хүүхэд. Дундговь аймгийн Эрдэнэдалай сумын 5-р багт амьдардаг. Амьдралын түүх: 2018 оны 11 сарын 20 онд 3600 грамм 53 см өндөртэй Төрөх замаар гүйцэд хүндрэлгүй, хугацаандаа төрсөн. Ам бүл 4 аав ээж дүүгийн хамт амьдардаг. Гэрээр хүмүүждэг. Харшилдаг эм тариа хоол хүнс байхгүй. Тогтмол хэргэлдэг эм тариа байхгүй. Гэрт амьдардаг. Товлолт вакцинжуулалтанд бүрэн хамрагдсан. Халдварт өвчинөөр өвдөж байгаагүй. Мэс засал, осол гэмтэл авч байгаагүй. Ердийн хоолоор хооллодог. Бодит үзлэг: Харааны чадал – Дүрс мэдэхгүй, нүдний даралт (I care) OD-13 mmHg OS-21 mmHg Зовхи Epicanthus-тай. Сормуус ердийн OU-ахромат OUхөдөлгөөн бүх чигт чөлөөтэй. Салст ердийн, Склер – ердийн. Эвэрлэгийн диаметр баруунд -12 мм, зүүнд -10,5 мм Polycoria баруун нүдэнд 3, зүүн нүдэнд -5 Өмнөд камер баруун нүдэнд гүн, зүүн нүдэнд маш гүехэн Болор шилэнцэр нүдний уг шинжлэх боломжгүй. Онош: Аксенфельд-Ригерийн хам шинж. Дүгнэлт: Дэлхийд ARS хам шинжийн маш цөөн тохиолдол бүртгэгдсэн байна. Монголд 2018онд ЭХЭМҮТ-д анх бүртгэгдсэн байна. Манай орон нутагт бүртгэгдсэн анхны тохиолдол байлаа.
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    Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization
    (2025-06)
    Gombojav, Bayasgalan
    ;
    Erdenechuluun, Jargalkhuu
    ;
    Batsaikhan, Tserendulam
    ;
    Danshiitsoodol, Narandalai
    ;
    Makhbal, Zaya
    Waardenburg syndrome (WS) is a rare genetic disorder that affects both hearing and pigmentation. The wide divergence of WS poses significant diagnostic and management challenges. This study investigated type 4 WS within an underrepresented Mongolian population. Whole-exome sequencing revealed that two unique heterozygous variants were identified in the SOX10 gene: c.393C>G (p.Asn131Lys) in a five-year-old female patient presenting with profound sensorineural hearing loss (SNHL), dystopia canthorum, and a white forelock; and c.535A>T (p.Lys179Ter) in a nine-year-old male patient presenting with profound SNHL, dystopia canthorum, and Hirschsprung's disease. Temporal bone imaging revealed abnormalities in the inner ear structure in both patients. The genotypic and phenotypic characteristics were meticulously delineated, incorporating the deleterious effects of these variants, as evaluated by multiple predictive tools and the American College of Medical Genetics and Genomics (ACMG) criteria. In addition, structural characterizations were also presented using AlphaFold. The findings of this study contribute valuable genetic data to the limited literature on type 4 WS within this ethnic group and highlight the importance of genetic testing and multidisciplinary care for this rare disorder in settings with limited resources.
    Scopus© Citations 2
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    A Unique SLC26A4 Mutation Spectrum in a Mongolian Enlarged Vestibular Aqueduct Cohort via Whole-Exome Sequencing: A Preliminary Study
    (2026-06)
    Erdenechuluun, Jargalkhuu
    ;
    Gombojav, Bayasgalan
    ;
    Batsaikhan, Tserendulam
    ;
    Lu, Yue-Sheng
    ;
    Danshiitsoodol, Narandalai
    Enlarged vestibular aqueduct (EVA) is a common inner ear malformation that causes sensorineural hearing loss. It is frequently associated with pathogenic variants in the SLC26A4 gene. This study aimed to investigate the genetic basis of hearing loss in Mongolian patients with EVA. Whole-exome sequencing was performed in 19 Mongolian patients from 15 unrelated families diagnosed with EVA with or without cochlear incomplete partition type II. All patients underwent high-resolution computed tomography of the temporal bone to confirm the diagnosis. Biallelic SLC26A4 pathogenic variants were identified in all 15 families, achieving a 100% diagnostic yield. The most frequent variant was c.919-2A>G (40%), followed by c.2027T>A (23.3%) and c.1318A>T (16.7%). The spectrum of variants includes population-specific variants found in East Asians (c.919-2A>G), North Asians (c.2027T>A), and Southwest Asians (c.716T>A), suggesting a unique mutation spectrum in this Mongolian cohort characterized by variants prevalent across various Eurasian populations, which remains to be confirmed in larger studies. Furthermore, correlation analyses on multi-ethnic allele frequencies of biallelic SLC26A4 genotypes demonstrated positive correlations with deaf cohorts of East Asian, North Asian, Northeast Asian, and Western Asian groups. Digenic inheritance (with pathogenic variants in FOXI1, KCNJ10, or EPHA2) was not observed, and there was no clear genotype-phenotype correlation between specific SLC26A4 genotypes and hearing levels or inner ear malformations. This study provides a comprehensive overview of the genetic landscape of EVA in the Mongolian population. The identification of biallelic SLC26A4 pathogenic variants in all families underscores the clinical role of this gene in EVA pathogenesis. The observed pan-ethnic mutation spectrum likely reflects the genetic diversity resulting from historical migrations of Mongolians.
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    Genetic Basis of Hearing Loss in Mongolian Patients: A Next-Generation Sequencing Study
    (2024-09)
    Gombojav, Bayasgalan
    ;
    Erdenechuluun, Jargalkhuu
    ;
    Makhbal, Zaya
    ;
    Danshiitsoodol, Narandalai
    ;
    Purevdorj, Erkhembulgan
    BACKGROUND/OBJECTIVE: The genetic landscape of sensorineural hearing impairment (SNHI) varies across populations. In Mongolia, previous studies have shown a lower prevalence of GJB2 mutations and a higher frequency of variants in other deafness-related genes. This study aimed to investigate the genetic variants associated with idiopathic SNHI in Mongolian patients. METHODS: We utilized the next-generation sequencing for investigating the causative mutations in 99 Mongolian patients with SNHI. RESULTS: We identified pathogenic variants in 53 of the 99 SNHI patients (54%), with SLC26A4 being the most frequently mutated gene. The c.919-2A>G variant in SLC26A4 was the most prevalent, accounting for 46.2% of the mutant alleles. In addition, we identified 19 other known and 21 novel mutations in a total of 21 SNHI genes in autosomal recessive or dominant inheritance patterns. CONCLUSIONS: Our findings expand the understanding of the genetic landscape of SNHI in Mongolia and highlight the importance of considering population-specific variations in genetic testing and counseling for SNHI.
    Scopus© Citations 2