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      Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families with a Mutation in the C2orf37 Gene

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          Abstract

          Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also known as Woodhouse-Sakati syndrome) is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have been reported so far. We report on an additional seven patients (four males and three females) from two highly consanguineous Arab families from Qatar, presenting with a milder phenotype of Woodhouse-Sakati syndrome. These patients show the spectrum of clinical features previously found in Woodhouse-Sakati syndrome, but lack evidence of diabetes mellitus and extrapyramidal symptoms. These two new families further illustrate the natural course and the interfamilial phenotypic variability of Woodhouse-Sakati syndrome that may lead to challenges in making the diagnosis. In addition, our study suggests that Woodhouse-Sakati syndrome may not be as infrequent in the Arab world as previously thought.

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          Author and article information

          Journal
          101235741
          32200
          Am J Med Genet A
          Am. J. Med. Genet. A
          American journal of medical genetics. Part A
          1552-4825
          1552-4833
          25 November 2019
          30 September 2011
          November 2011
          11 December 2019
          : 155A
          : 11
          : 2647-2653
          Affiliations
          [1 ]Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation
          [2 ]Departments of Pediatrics and Genetic Medicine, Weil-Cornell Medical College, New York and Doha, Qatar
          [3 ]Department of Pediatrics, King Khalid National Guard Hospital, Jeddah, K.S.A
          [4 ]Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Department of Medicine, Children’s Hospital Boston, Boston, MA 02115, USA
          [5 ]Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.
          Author notes
          Corresponding author: Tawfeg Ben-Omran, MD, FRCPC, FCCMG, Clinical and Metabolic Genetics, A/Professor, Weill Cornell Medical College, Department of Pediatrics, Hamad Medical Corporation, P.O.BOX. 3050, Doha-Qatar, Phone: 00974-44395191, Pager: 00974-44346352, Mobile: 00974-55823088, Fax# 00974-44395161, tawben11@ 123456hotmail.com
          Article
          PMC6905109 PMC6905109 6905109 nihpa349712
          10.1002/ajmg.a.34219
          6905109
          21964978
          349c482b-4709-47cd-bf5c-2b3276655e67
          History
          Categories
          Article

          alopecia,autosomal recessive,Qatar,Woodhouse-Sakati syndrome,Arab,hypogonadism,deafness,learning disabilities,diabetes mellitus

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