A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Autor: Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Szelinger S; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Bearden DR; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY 14627, USA., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424 Oslo, Norway., Busk OL; Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, 3710 Skien, Norway., Stong N; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Cohn RD; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Tarpinian J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Deardorff MA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Friedman JN; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Akdemir ZC; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424 Oslo, Norway., Walley N; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Mikati MA; Division of Pediatric Neurology, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Kranz PG; Division of Neuroradiology, Department of Radiology, Duke Health, Durham, NC 27710, USA., Jasien J; Division of Pediatric Neurology, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Wechsler SB; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA; Division of Cardiology, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Freemark M; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Kansagra S; Division of Pediatric Neurology, Department of Pediatrics, Duke Health, Durham, NC 27710, USA., Freedman S; Duke Eye Center, Duke Health, Durham, NC 27710, USA., Bali D; Department of Pathology, Duke Health, Durham, NC 27710, USA., Millan F; GeneDx, Gaithersburg, MD 20877, USA., Bale S; GeneDx, Gaithersburg, MD 20877, USA., Nelson SF; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lee H; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Dorrani N; Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Martinez-Agosto JA; Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: michael.wangler@bcm.edu., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC 27710, USA. Electronic address: vandana.shashi@duke.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Feb 02; Vol. 100 (2), pp. 343-351. Date of Electronic Publication: 2017 Jan 26.