A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22-Reference-Cited by-同舟云学术

A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22

Published:2017-11-01 Issue:6 Volume:37 Page:516-521
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Choi Sun Ah¹,Kim Soo Yeon¹,Yoon Jihoo²,Choi Joongmoon²,Park Sung Sup²³,Seong Moon-Woo²³,Kim Hunmin⁴,Hwang Hee⁴,Choi Ji Eun⁵,Chae Jong Hee¹,Kim Ki Joong¹,Kim Seunghyo⁶,Lee Yun-Jin⁷,Nam Sang Ook⁷,Lim Byung Chan¹

Affiliation:

1. Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea

2. Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

3. Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea

4. Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea

5. Department of Pediatrics, Seoul National University Boramae Medical Center, Seoul, Korea

6. Department of Pediatrics, Jeju National University Hospital, Jeju National University School of Medicine, Jeju, Korea

7. Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University College of Medicine, Yangsan, Korea

Funder

National Research Foundation of Korea

Ministry of Science, ICT & Future Planning

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2017.37.6.516

Reference26 articles.

1. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

2. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases

3. Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel

4. Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

5. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

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2. Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts;Molecular Genetics & Genomic Medicine;2024-02

3. Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1;Open Biology;2021-12

4. Novel variants causing megalencephalic leukodystrophy in Sudanese families;Journal of Human Genetics;2021-09-10

5. A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient;Balkan Journal of Medical Genetics;2019-11-01