دورية أكاديمية
أعرض في EDS

Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

التفاصيل البيبلوغرافية
العنوان: Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.
المؤلفون: Ranjan A; Department of Neonatology, Rani Hospital, Ranchi, IND., Alam MS; Department of Neonatology, Rani Hospital, Ranchi, IND., Kumar V; Department of Neonatology, Rani Hospital, Ranchi, IND., Kumar R; Department of Neonatology, Rani Hospital, Ranchi, IND., Saifullah KM; Department of Neonatology, Rani Hospital, Ranchi, IND., Fakih S; Department of Neonatology, Rani Hospital, Ranchi, IND.
المصدر: Cureus [Cureus] 2024 May 21; Vol. 16 (5), pp. e60737. Date of Electronic Publication: 2024 May 21 (Print Publication: 2024).
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Palo Alto, CA : Cureus, Inc.
مستخلص: Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) results from mutations in the phosphatidylinositol glycan biosynthesis class T (PIGT) gene leading to defects in glycosylphosphatidylinositol transamidase complex (GPI-TA) synthesis. Glycosylphosphatidylinositol serves as an anchor to more than 150 mammalian proteins for attachment on cell surfaces, enabling specific functional properties. Mutations in the PIGT gene result in disruption of this extremely important post-translational protein modification, yielding dysfunctional proteins leading to MCAHS3. An exhaustive literature search was conducted across various electronic databases to reveal only 41 reported cases of MCAHS3 worldwide, emphasizing the rarity of this condition. Multiple congenital anomalies-hypotonia-seizures syndrome 3 has been reported as secondary to 18 different known PIGT variants to date, manifesting as a varying spectrum of craniofacial dysmorphism, developmental delay with epilepsy, cardiac and renal malformations, and unique features in biochemical testing and neuroimaging. This review aims to highlight the constellation of clinical symptoms, diagnostic modalities, and management challenges associated with MCAHS3 cases. It would help determine optimal diagnostic and treatment strategies for newly identified cases and facilitate new research on this rare condition.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2024, Ranjan et al.)
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فهرسة مساهمة: Keywords: craniofacial dysmorphism; gpi deficiency; mcahs3; multiple congenital anomalies-hypotonia-seizures syndrome 3; pediatric seizure disorder; pigt
تواريخ الأحداث: Date Created: 20240621 Latest Revision: 20240622
رمز التحديث: 20240622
مُعرف محوري في PubMed: PMC11187727
DOI: 10.7759/cureus.60737
PMID: 38903302
قاعدة البيانات: MEDLINE
الوصف
تدمد:2168-8184
DOI:10.7759/cureus.60737