Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts
| Autor: | Ryo Chikuchi, Kazuhiro Iwama, Shuichi Ito, Ryuta Tanaka, Hiroya Nishida, Hirokazu Oguni, Shun Nagamine, Hidehiro Shibayama, Akiko Sekine, Satoko Kumada, Naomichi Matsumoto, M. Shichiji, Atsushi Takata, Yoshio Ikeda, Satoko Miyatake, Susumu Ito, Yuichi Oka, Toshiyuki Yamamoto, Hisayoshi Niwa, Noriko Miyake, Takeshi Yoshida, Takeshi Mizuguchi, Mitsuko Nakashima, Tomonari Awaya, Hirotomo Saitsu, Jun-ichi Takanashi |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine Proband Heterozygote Gastrointestinal bleeding Pathology medicine.medical_specialty Databases Factual Telomere-Binding Proteins medicine.disease_cause Compound heterozygosity Leukoencephalopathy 03 medical and health sciences symbols.namesake 0302 clinical medicine Leukoencephalopathies Genetics medicine Humans RNA Small Nucleolar Genetic Predisposition to Disease Central Nervous System Cysts Gene Alleles Genetics (clinical) Sanger sequencing Mutation Cysts business.industry Brain Calcinosis Anatomy medicine.disease 030104 developmental biology symbols Female Cerebroretinal microangiopathy with calcifications and cysts business 030217 neurology & neurosurgery |
| Zdroj: | Clinical Genetics. 92:180-187 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/cge.12991 |
| Popis: | Background Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that they are genetically distinct. Mutations in CTS telomere maintenance complex component 1 (CTC1) and small nucleolar RNA, C/D box 118 (SNORD118) genes have been found to cause Coats plus and LCC, respectively. Materials and Methods Eight unrelated families with LCC were recruited. These patients typically showed major neuroradiological findings of LCC with no signs of extra-neurological manifestations such as retinal abnormality, gastrointestinal bleeding, or hematological abnormalities. SNORD118 was examined by Sanger sequencing in these families. Results Seven out of eight probands carry compound heterozygous mutations, suggesting that SNORD118 mutations are the major cause of LCC. We identified a total of eight mutation, including four that were novel. Some of the variants identified in this study present heterozygously in public databases with an extremely rare frequency ( |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text