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Journals / Medical Research Reports / 2024 / Volume: 7 Issue: 3

X-Linked Intellectual Disability with NEXMIF Gene Mutation and Developmental Delay with GNAO1 Gene Mutation: Case Report

NEXMIF ve GNAO1 Gen Mutasyonlarıyla X'e Bağlı Zihinsel Engellilik: Vaka Sunumu

Tayfun Aygün(UNIVERSITY OF HEALTH SCIENCES, INSTITUTE OF HEALTH SCIENCES, ANATOMY (DR))0000-0001-5058-3513
Sevim Yener(UNIVERSITY OF HEALTH SCIENCES, İSTANBUL ÜMRANİYE HEALTH RESEARCH CENTER, DEPARTMENT OF SURGICAL MEDICAL SCIENCES, DEPARTMENT OF PEDIATRIC SURGERY, PEDIATRIC UROLOGY)0000-0002-7327-8228
Nurullah Yücel(UNIVERSITY OF HEALTH SCIENCES, SCHOOL OF MEDICINE, DEPARTMENT OF BASIC MEDICAL SCIENCES (MEDICINE), DEPARTMENT OF ANATOMY (MEDICINE))0000-0003-2689-4287
Gulam Hekimoğlu(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, HAMİDİYE ULUSLARARASI TIP FAKÜLTESİ, TEMEL TIP BİLİMLERİ BÖLÜMÜ, HİSTOLOJİ VE EMBRİYOLOJİ ANABİLİM DALI)0000-0002-5027-6756
Metin Eser(UNIVERSITY OF HEALTH SCIENCES, İSTANBUL ÜMRANİYE HEALTH RESEARCH CENTER, DEPARTMENT OF INTERNAL MEDICINE, DEPARTMENT OF MEDICAL GENETICS)0000-0001-7118-7958
Zekeriya İlce(SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İSTANBUL SANCAKTEPE ŞEHİR PROF. DR. İLHAN VARANK SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ, CERRAHİ TIP BİLİMLERİ BÖLÜMÜ, ÇOCUK CERRAHİSİ ANABİLİM DALI)0000-0002-3473-5051
Pages
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Publication Date
2024-10-31
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Future studies are necessary to understand the complex interactions between these genes and how they affect XLID and related symptoms.

📌 3 Key Takeaways

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Objective & Hypothesis:X-linked intellectual disability (XLID) is a genetically heterogeneous disorder.
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Key Findings & Data:Currently, 162 genes linked to XLID have been found, but the cause of XLID is still unclear.
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Conclusion & Impact:Future studies are necessary to understand the complex interactions between these genes and how they affect XLID and related symptoms.
🔬Design:Case Report
📍Scope:Comprehensive Sample
⚙️Variables:GNAO1 · Microcephaly · NEXMIF

Abstract

X-linked intellectual disability (XLID) is a genetically heterogeneous disorder. Currently, 162 genes linked to XLID have been found, but the cause of XLID is still unclear. While the GNAO1 gene is crucial for hypotonia, epilepsy, developmental delay, and movement disorders, the NEXMIF gene, also known as KIAA2022, has associations with XLID, autism, and epilepsy. The subject of the study, a 5-year-old girl has lots of congenital defects, including a cleft palate, anal atresia, hypotonia in her lower limbs, and thumb missing. A variety of eye abnormalities, such as scoliosis, finger malformations, and craniofacial dysmorphism. Radiological tests revealed substantial heart problems, bilateral renal hypoplasia, and brain abnormalities. She met milestones more later than her contemporaries, indicating clear developmental deficits. The NEXMIF and GNAO1 genes both include heterozygous frameshift variants that were discovered through genetic research using next-generation sequencing. The complex and varied clinical signs of XLID are shown in this case. The clinical picture is further complicated by the co-occurrence of mutations in the NEXMIF and GNAO1 genes, which emphasizes the need for an approach to offer suitable therapy solutions. Future studies are necessary to understand the complex interactions between these genes and how they affect XLID and related symptoms.

Özet

X'e bağlı zihinsel engellilik (XLID) genetik olarak heterojen bir bozukluktur. Şu anda XLID ile bağlantılı 162 gen bulundu, ancak XLID'nin nedeni hala belirsiz. GNAO1 geni hipotoni, epilepsi, gelişimsel gecikme ve hareket bozuklukları için önemli olsa da, KIAA2022 olarak da bilinen NEXMIF geni XLID, otizm ve epilepsi ile ilişkilidir. Çalışmanın konusu olan 5 yaşında bir kız çocuğunun yarık damak, anal atrezi, alt ekstremitelerinde hipotoni ve baş parmağının olmaması gibi birçok doğuştan kusuru vardır. Skolyoz, parmak malformasyonları ve kraniyofasiyal dismorfizm gibi çeşitli göz anormallikleri vardır. Radyolojik testler önemli kalp sorunları, bilateral böbrek hipoplazisi ve beyin anormallikleri ortaya koydu. Çağdaşlarından daha geç dönüm noktalarına ulaştı ve bu da açık gelişimsel eksiklikleri gösteriyor. NEXMIF (NM_001008537.2) ve GNAO1 (NM_138736.2) genleri, yeni nesil dizileme kullanılarak genetik araştırma yoluyla keşfedilen heterozigot çerçeve kayması varyantlarını içerir. Bu vakada XLID ve gelişimsel gecikmenin karmaşık ve çeşitli klinik belirtileri gösterilmiştir. Klinik tablo, NEXMIF ve GNAO1 genlerindeki mutasyonların birlikte görülmesiyle daha da karmaşık hale gelir ve bu da uygun tedavi çözümleri sunmak için bir yaklaşıma olan ihtiyacı vurgular. Bu genler arasındaki karmaşık etkileşimleri ve XLID ve gelişimsel gecikmeyle ilişkili semptomları nasıl etkilediklerini anlamak için gelecekteki çalışmalara ihtiyaç vardır.

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Cite This Article

Aygün, T., Yener, S., Yücel, N., Hekimoğlu, G., Eser, M., İlce, Z. (2024). X-Linked Intellectual Disability with NEXMIF Gene Mutation and Developmental Delay with GNAO1 Gene Mutation: Case Report. Medical Research Reports, Volume: 7 Issue: 3. https://doi.org/10.55517/mrr.1439712

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