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      Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

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          Abstract

          The causative variant in a consanguineous family in which the three patients (two siblings and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial dysmorphisms, chronic diarrhea and progressive kyphoscoliosis, has been identified through whole exome sequencing (WES) analysis. WES study identified a homozygous DDC variant in the patients, c.1123C>T, resulting in p.Arg375Cys missense substitution. Mutations in DDC cause a recessive metabolic disorder (aromatic amino acid decarboxylase, AADC, deficiency, OMIM #608643) characterized by hypotonia, oculogyric crises, excessive sweating, temperature instability, dystonia, severe neurologic dysfunction in infancy, and specific abnormalities of neurotransmitters and their metabolites in the cerebrospinal fluid (CSF). In our family, analysis of neurotransmitters and their metabolites in patient's CSF shows a pattern compatible with AADC deficiency, although the clinical signs are different from the classic form. Our work expands the phenotypic spectrum associated with DDC variants, which therefore can cause an additional novel syndrome without typical movement abnormalities.

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          Author and article information

          Journal
          Gene
          Gene
          Elsevier BV
          1879-0038
          0378-1119
          Apr 01 2015
          : 559
          : 2
          Affiliations
          [1 ] Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
          [2 ] Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy; Clinical Genetics Unit, Arcispedale S. Maria Nuova, IRCCS, Reggio Emilia, Italy.
          [3 ] Unit of Child Neurology and Psychiatry, Arcispedale S. Maria Nuova, IRCCS, Reggio Emilia, Italy.
          [4 ] Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
          [5 ] Clinical Genetics Unit, Arcispedale S. Maria Nuova, IRCCS, Reggio Emilia, Italy; Medical Genetic Service, Department of Laboratory, S. Chiara Hospital, Trento, Italy.
          [6 ] Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
          [7 ] Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA.
          [8 ] Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy. Electronic address: elena.bonora6@unibo.it.
          [9 ] Clinical Genetics Unit, Arcispedale S. Maria Nuova, IRCCS, Reggio Emilia, Italy.
          Article
          S0378-1119(15)00042-6
          10.1016/j.gene.2015.01.026
          25597765

          DDC, Intellectual disability, Whole exome sequencing

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