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Expanding the KIF4A-associated phenotype.
Kalantari, Silvia; Carlston, Colleen; Alsaleh, Norah; Abdel-Salam, Ghada M H; Alkuraya, Fowzan; Kato, Mitsuhiro; Matsumoto, Naomichi; Miyatake, Satoko; Yamamoto, Tatsuya; Fares-Taie, Lucas; Rozet, Jean-Michel; Chassaing, Nicolas; Vincent-Delorme, Catherine; Kang-Bellin, Anjeung; McWalter, Kirsty; Bupp, Caleb; Palen, Emily; Wagner, Monisa D; Niceta, Marcello; Cesario, Claudia; Milone, Roberta; Kaplan, Julie; Wadman, Erin; Dobyns, William B; Filges, Isabel.
Affiliation
  • Kalantari S; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  • Carlston C; Department of Clinical Research, University Hospital Basel, Basel, Switzerland.
  • Alsaleh N; Division of Medical Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Abdel-Salam GMH; Division of Medical Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alkuraya F; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Kato M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Matsumoto N; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
  • Yamamoto T; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
  • Fares-Taie L; Department of Pediatrics, Hirosaki University School of Medicine, Hirosaki, Japan.
  • Rozet JM; INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, Paris, France.
  • Chassaing N; INSERM UMR1163, Imagine - Institute of Genetic Diseases, Paris Descartes University, Paris, France.
  • Vincent-Delorme C; Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France.
  • Kang-Bellin A; Department of Clinical Genetics, CHU Lille, Lille, France.
  • McWalter K; Centre for Prenatal Ultrasound, Basel, Switzerland.
  • Bupp C; GeneDx, 207 Perry Parkway, Gaithersburg, Maryland, USA.
  • Palen E; Spectrum Health, Grand Rapids, Michigan, USA.
  • Wagner MD; Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.
  • Niceta M; Autism & Developmental Medicine Institute, Danville, Pennsylvania, USA.
  • Cesario C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Milone R; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Kaplan J; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • Wadman E; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA.
  • Dobyns WB; Division of Genetics, Department of Pediatrics, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, Delaware, USA.
  • Filges I; Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
Am J Med Genet A ; 185(12): 3728-3739, 2021 12.
Article in En | MEDLINE | ID: mdl-34346154
Kinesin super family (KIF) genes encode motor kinesins, a family of evolutionary conserved proteins, involved in intracellular trafficking of various cargoes. These proteins are critical for various physiological processes including neuron function and survival, ciliary function and ciliogenesis, and cell-cycle progression. Recent evidence suggests that alterations in motor kinesin genes can lead to a variety of human diseases, including monogenic disorders. Neuropathies, impaired higher brain functions, structural brain abnormalities and multiple congenital anomalies (i.e., renal, urogenital, and limb anomalies) can result from pathogenic variants in many KIF genes. We expand the phenotype associated with KIF4A variants from developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of phenotypic manifestations. Additional anomalies of the kidneys and urinary tract, congenital lymphedema, eye, and dental anomalies seem to be variably associated and overlap with clinical signs observed in other kinesinopathies. Caution still applies to missense variants, but hopefully, future work will further establish genotype-phenotype correlations in a larger number of patients and functional studies may give further insights into the complex function of KIF4A.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urogenital Abnormalities / Vesico-Ureteral Reflux / Abnormalities, Multiple / Brain / Kinesins Type of study: Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urogenital Abnormalities / Vesico-Ureteral Reflux / Abnormalities, Multiple / Brain / Kinesins Type of study: Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Country of publication: