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  • A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan

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A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
  1. HATEM EL-SHANTI
  1. Departments of Paediatrics and Medical Laboratory Sciences, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
  2. Department of Ophthalmology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
  3. Department of Physical Anthropology, Yarmouk University, Irbid, Jordan
  4. Department of Internal Medicine, School of Medicine, Jordan University, Amman, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
  5. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
  6. Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    1. MAHMOUD AL-SALEM
    1. Departments of Paediatrics and Medical Laboratory Sciences, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
    2. Department of Ophthalmology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
    3. Department of Physical Anthropology, Yarmouk University, Irbid, Jordan
    4. Department of Internal Medicine, School of Medicine, Jordan University, Amman, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
    5. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    6. Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
      1. MAHMOUD EL-NAJJAR
      1. Departments of Paediatrics and Medical Laboratory Sciences, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
      2. Department of Ophthalmology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
      3. Department of Physical Anthropology, Yarmouk University, Irbid, Jordan
      4. Department of Internal Medicine, School of Medicine, Jordan University, Amman, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
      5. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
      6. Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
        1. KAMEL AJLOUNI
        1. Departments of Paediatrics and Medical Laboratory Sciences, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
        2. Department of Ophthalmology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
        3. Department of Physical Anthropology, Yarmouk University, Irbid, Jordan
        4. Department of Internal Medicine, School of Medicine, Jordan University, Amman, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
        5. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
        6. Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
          1. JOHN BECK,
          2. VAL C SHEFFIELD
          1. Departments of Paediatrics and Medical Laboratory Sciences, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
          2. Department of Ophthalmology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
          3. Department of Physical Anthropology, Yarmouk University, Irbid, Jordan
          4. Department of Internal Medicine, School of Medicine, Jordan University, Amman, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
          5. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
          6. Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
            1. EDWIN M STONE
            1. Departments of Paediatrics and Medical Laboratory Sciences, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
            2. Department of Ophthalmology, School of Medicine, Jordan University of Science and Technology, Irbid, Jordan
            3. Department of Physical Anthropology, Yarmouk University, Irbid, Jordan
            4. Department of Internal Medicine, School of Medicine, Jordan University, Amman, Jordan and National Center for Diabetes, Endocrinology and Genetics, Amman, Jordan
            5. Howard Hughes Medical Institute and Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
            6. Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA

              https://doi.org/10.1136/jmg.36.11.862

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                Editor—Leber congenital amaurosis (LCA) (MIM 204000) has the earliest onset and is the most severe form of retinal dystrophy.1-3 It is an autosomal recessive condition that is recognised within the first few months of life because of impaired vision and an extinguished electroretinogram.4 Nystagmus, specifically pendular, and eye poking are frequently observed early on,5 while hypermetropia and keratoconus may develop later during the course of the disease.6 7 Genetic heterogeneity was confirmed when the first gene of LCA was mapped to chromosome 17p13.1 (LCA1) by homozygosity mapping in consanguineous Arab families.8 9 Four different mutations in the retinal specific guanylate cyclase gene (RETGC) were found in four unrelated probands and thus LCA1 was assumed to result from homozygous alterations in this gene.10

                We report here a nonsense mutation in theRETGC gene, which in the homozygous state is responsible for LCA in a large inbred tribe from Jordan. We had already identified a large, highly inbred family from the Jordan valley consisting of about 2000 living subjects, in which affected members have LCA.11 A 31 member subset of this family was investigated (fig 1). All members were examined by an ophthalmologist and a paediatrician. Four patients had ERG performed (Nos 3, 9, 13, 14). Blood samples were collected from 28 family members …

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