Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

Autor: LONARDO F, LUQUETTI DV, ANNUNZIATA I, DELLA MONICA M, PERONE L, GREGORI M, ZUFFARDI O, SCARANO G., PARENTI, GIANCARLO, BRUNETTI PIERRI, NICOLA, ANDRIA, GENEROSO

Publikováno v: European Journal of Medical Genetics. 50:301-308

Microdeletions of Xp22.3 can result in contiguous gene syndromes, showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism, anosmia, ocular albinism,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac209585936dd8b84ce848fb909cb715
https://doi.org/10.1016/j.ejmg.2007.04.005

Regulatory news: Cipaglucosidase alfa-atga (Pombiliti) coadministered with Miglustat (Opfolda) for adults with late-onset Pompe disease.

Autor: Luquetti DV; Office of New Drugs, Center for Drug Evaluation and Research, Silver Spring, Maryland, USA., Jeng LJB; Office of New Drugs, Center for Drug Evaluation and Research, Silver Spring, Maryland, USA., Donohue KM; Office of New Drugs, Center for Drug Evaluation and Research, Silver Spring, Maryland, USA., Maynard JW; Office of New Drugs, Center for Drug Evaluation and Research, Silver Spring, Maryland, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 578-581. Date of Electronic Publication: 2024 May 20.

Parental Reports of Intervention Services and Prevalence of Teasing in a Multinational Craniofacial Microsomia Pediatric Study.

Autor: Johns AL; Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA., Luquetti DV; Craniofacial Center at Seattle Children's Hospital and University of Washington School of Medicine, Seattle, WA., Heike CL; Craniofacial Center at Seattle Children's Hospital and University of Washington School of Medicine, Seattle, WA., Drake AF; University of North Carolina, Chapel Hill, NC., Roque MMD; Hospital Edgardo Rebagliati Martins, EsSalud, Jesús María, Peru., Hurtado-Villa P; Pontificia Universidad Javeriana., Pachajoa H; Universidad Icesi, Cali., Porras-Hurtado GL; Comfamiliar Risaralda, Pereira., Zarante I; Pontificia Universidad Javeriana, Bogotá, Colombia., Magee L; Children's Hospital of Philadelphia, Philadelphia, PA.

Publikováno v: The Journal of craniofacial surgery [J Craniofac Surg] 2021 Nov-Dec 01; Vol. 32 (8), pp. 2687-2691.

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Autor: Timberlake AT; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA. andrew.timberlake@nyumc.org., Griffin C; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA., Heike CL; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Hing AV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Cunningham ML; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Davis MR; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia., Doust SJ; Genetics Program, Peterborough Regional Health Centre, Peterborough, ON, Canada., Drake AF; Department of Otolaryngology/Head and Neck Surgery, University of North Carolina, Chapel Hill, NC, USA., Duenas-Roque MM; Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Goldblatt J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia., Gustafson JA; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA., Hurtado-Villa P; Pontificia Universidad Javeriana and Centro Médico Imbanaco, Cali, Colombia., Johns A; Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA., Karp N; Department of Pediatrics, London Health Sciences Centre, Division of Medical Genetics, Western University, London, ON, Canada., Laing NG; Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Magee L; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mullegama SV; GeneDx, Gaithersburg, MD, USA., Pachajoa H; Universidad Icesi and Fundacion Clinica Valle del Lili, Cali, Colombia., Porras-Hurtado GL; Clinica Comfamiliar Risaralda, Pereira, Colombia., Schnur RE; GeneDx, Gaithersburg, MD, USA.; Dept of Pediatrics, Cooper Medical School of Rowan University; Division of Genetics, Cooper University Health Care, Camden, NJ, USA., Slee J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia., Singer SL; Perth Children's Hospital, Nedlands, WA, Australia., Staffenberg DA; Hansjorg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Wise CA; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia., Zarante I; Human Genomics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.; Hospital Universitario San Ignacio, Bogotá, Colombia., Saint-Jeannet JP; Department of Molecular Pathobiology, New York University College of Dentistry, New York, NY, USA., Luquetti DV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA. luquetti@uw.edu.; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA. luquetti@uw.edu.

Publikováno v: Nature communications [Nat Commun] 2021 Aug 03; Vol. 12 (1), pp. 4680. Date of Electronic Publication: 2021 Aug 03.

Microtia and craniofacial microsomia: Content analysis of facebook groups.

Autor: Umbaugh HM; Center for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, 700 Children's Drive, FOB Suite 3A.1, Columbus, OH, 43205, USA. Electronic address: Hailey.Umbaugh@nationwidechildrens.org., Crerand CE; Center for Biobehavioral Health, The Abigail Wexner Research Institute at Nationwide Children's Hospital, 700 Children's Drive, FOB Suite 3A.1, Columbus, OH, 43205, USA; Department of Pediatrics and Plastic Surgery, The Ohio State University College of Medicine, USA. Electronic address: Canice.Crerand@nationwidechildrens.org., Stock NM; Center for Appearance Research, University of the West of England, Coldharbour Lane, Bristol, BS16 1QY, UK. Electronic address: Nicola2.Stock@uwe.ac.uk., Luquetti DV; Seattle Children's Hospital, Craniofacial Center, Seattle Children's Research Institute, University of Washington, Department of Pediatrics, 1900 Ninth Avenue, Mailstop C9S-5, Seattle, WA, 98101, USA. Electronic address: daniela.luquetti@seattlechildrens.org., Heike CL; Seattle Children's Hospital, Craniofacial Center, Seattle Children's Research Institute, University of Washington, Department of Pediatrics, 1900 Ninth Avenue, Mailstop C9S-5, Seattle, WA, 98101, USA. Electronic address: carrie.heike@seattlechildrens.org., Drake AF; Department of Otolaryngology/Head and Neck Surgery, Craniofacial Center, University of North Carolina, Chapel Hill, NC, 27599, USA. Electronic address: Amelia_Drake@unc.edu., Billaud Feragen KJ; Center for Rare Disorders, Oslo University Hospital (Rikshospitalet), Postboks 4950 Nydalen, 0424, Oslo, Norway. Electronic address: krifer@ous-hf.no., Johns AL; Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, 4650 Sunset Blvd, MS#96, Los Angeles, CA, 90027, USA. Electronic address: ajohns@chla.usc.edu.

Publikováno v: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2020 Nov; Vol. 138, pp. 110301. Date of Electronic Publication: 2020 Aug 09.