Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.

Hiraide, Takuya; Shimizu, Kenji; Miyamoto, Sachiko; Aoto, Kazushi; Nakashima, Mitsuko; Yamaguchi, Tomomi; Kosho, Tomoki; Ogata, Tsutomu; Saitsu, Hirotomo

Hiraide, Takuya; Shimizu, Kenji; Miyamoto, Sachiko; Aoto, Kazushi; Nakashima, Mitsuko; Yamaguchi, Tomomi; Kosho, Tomoki; Ogata, Tsutomu; Saitsu, Hirotomo.

Affiliation

Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Shimizu K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Miyamoto S; Division of Medical Genetics, Shizuoka Children's Hospital, Shizuoka, Japan.
Aoto K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Yamaguchi T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Kosho T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
Ogata T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Saitsu H; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.

J Hum Genet ; 67(7): 387-392, 2022 Jul.

Article in En | MEDLINE | ID: mdl-35067677

Subject(s)

Fibrillin-1; Marfan Syndrome; RNA Splicing; Urine; Female; Fibrillin-1/genetics; Humans; Leukocytes, Mononuclear; Male; Marfan Syndrome/diagnosis; Marfan Syndrome/genetics; Mutation; Sequence Analysis, RNA; Urine/cytology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urine / RNA Splicing / Fibrillin-1 / Marfan Syndrome Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Japan

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