title: Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.
abstract: Moyamoya disease (MMD) is a chronic steno-occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (RNF213) on the 17q25.3 locus was identified as an MMD-susceptibility gene in East Asian populations. We report a 5-year-old Japanese boy diagnosed with cerebral infarction and unilateral MMD. Magnetic resonance angiography (MRA) showed severe stenosis of the left internal carotid artery (ICA), terminal portion of the left ICA, and left origin of the posterior cerebral artery. Genetic testing indicated a heterozygous c.14429G > A (formerly described as c.14576G > A) variant in RNF213. The boy's mother had no neurological symptoms, but sequencing of RNF213 showed the same variant, and MRA indicated stenosis of the terminal bilateral ICA. This is the first report, to our knowledge, of different MMD phenotypes in a familial case involving the same heterozygous c.14429G > A variant in RNF213. Genetic testing for RNF213 is suggested for family member screening.
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Takeshi
authors: T
authors: Inoue
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Nobuyuki
authors: N
authors: Murakami
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Satoru
authors: S
authors: Sakadume
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Yasuhiro
authors: http://orcid.org/0000-0003-3775-4538
authors: Y
authors: Kido
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Astuo
authors: A
authors: Kikuchi
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Natsuko
authors: N
authors: Ichinoi
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Kensuke
authors: K
authors: Suzuki
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Shigeo
authors: S
authors: Kure
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama, Japan.
authors: Ryoichi
authors: R
authors: Sakuta
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D009072:Moyamoya Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D015899:Tomography, Emission-Computed, Single-Photon; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases
keywords: RNF213; familial; moyamoya disease; phenotype; unilateral