Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
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| Title: | Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. |
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| Authors: | Hughes JJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Alkhunaizi E; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: paul.kruszka@nih.gov., Pyle LC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Berger SI; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA., Payne KK; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA., Masser-Frye D; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA., Hu T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Christie MR; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA., Clegg NJ; Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA., Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA., Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Walsh LE; Division of Child Neurology, Riley Hospital for Children, Indianapolis, Indiana, 46202, USA., Bedoukian E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Jones MC; Department of Pediatrics, Division of Genetics, University of California San Diego-Rady Children's Hospital, San Diego, CA 92123, USA., Harris CJ; Department of Pediatric Genetics, University of Missouri Medical Center, Columbia, MO 65212, USA., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, 4JQ2+9Q, Germany., Choukair D; Division of Paediatric Endocrinology and Diabetology, University Children's Hospital, 69120 Heidelberg, Germany., Fechner PY; Division of Pediatric Endocrinology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA., Rutter MM; Division of Endocrinology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Hufnagel SB; Rare Disease Institute, Children's National Hospital, Washington, DC 20010, USA., Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada., Kletter GB; Pediatric Endocrinology, Mary Bridge Children's Hospital, Tacoma, WA 98404, USA., Delot E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA., Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20037, USA., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA., Vezina CM; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, University of Wisconsin-Madison, Madison, WI 53706, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada. |
| Source: | American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 121-128. Date of Electronic Publication: 2019 Dec 26. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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