1 Ocak 2020 Dergi makalesi Açık Erişim

Zahra, Qandeel; Cakmak, Cagla; Koprulu, Mine; Shuaib, Muhammad; Sobreira, Nara; Kalsner, Louisa; Sobreira, Joselito; Sacoto, Maria J. Guillen; Malik, Sajid; Tolun, Aslihan

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/6527</identifier>
  <creators>
    <creator>
      <creatorName>Zahra, Qandeel</creatorName>
      <givenName>Qandeel</givenName>
      <familyName>Zahra</familyName>
      <affiliation>Quaid I Azam Univ, Fac Biol Sci, Dept Zool, Human Genet Program, Islamabad, Pakistan</affiliation>
    </creator>
    <creator>
      <creatorName>Cakmak, Cagla</creatorName>
      <givenName>Cagla</givenName>
      <familyName>Cakmak</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Koprulu, Mine</creatorName>
      <givenName>Mine</givenName>
      <familyName>Koprulu</familyName>
    </creator>
    <creator>
      <creatorName>Shuaib, Muhammad</creatorName>
      <givenName>Muhammad</givenName>
      <familyName>Shuaib</familyName>
      <affiliation>Quaid I Azam Univ, Fac Biol Sci, Dept Zool, Human Genet Program, Islamabad, Pakistan</affiliation>
    </creator>
    <creator>
      <creatorName>Sobreira, Nara</creatorName>
      <givenName>Nara</givenName>
      <familyName>Sobreira</familyName>
      <affiliation>Johns Hopkins Univ, McKusick Nathans Dept Genet Med, Sch Med, Baltimore, MD 21205 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Kalsner, Louisa</creatorName>
      <givenName>Louisa</givenName>
      <familyName>Kalsner</familyName>
    </creator>
    <creator>
      <creatorName>Sobreira, Joselito</creatorName>
      <givenName>Joselito</givenName>
      <familyName>Sobreira</familyName>
      <affiliation>Univ Fed Sao Paulo, Dept Morphol &amp; Genet, Div Genet, Sao Paulo, Brazil</affiliation>
    </creator>
    <creator>
      <creatorName>Sacoto, Maria J. Guillen</creatorName>
      <givenName>Maria J. Guillen</givenName>
      <familyName>Sacoto</familyName>
      <affiliation>GeneDx, Gaithersburg, MD USA</affiliation>
    </creator>
    <creator>
      <creatorName>Malik, Sajid</creatorName>
      <givenName>Sajid</givenName>
      <familyName>Malik</familyName>
      <affiliation>Quaid I Azam Univ, Fac Biol Sci, Dept Zool, Human Genet Program, Islamabad, Pakistan</affiliation>
    </creator>
    <creator>
      <creatorName>Tolun, Aslihan</creatorName>
      <givenName>Aslihan</givenName>
      <familyName>Tolun</familyName>
    </creator>
  </creators>
  <titles>
    <title>Biallelicznf407Mutations In A Neurodevelopmental Disorder With Id, Short Stature And Variable Microcephaly, Hypotonia, Ocular Anomalies And Facial Dysmorphism</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2020</publicationYear>
  <dates>
    <date dateType="Issued">2020-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/6527</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1038/s10038-020-0812-0</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">We describe five members of a consanguineous Pakistani family (Family I) plus two affected children from families of different ethnic origins presenting with neurodevelopmental disorders with overlapping features. All affected individuals from families have intellectual disability (ID), ranging from mild to profound, and reduced motor and cognitive skills plus variable features including short stature, microcephaly, developmental delay, hypotonia, dysarthria, deafness, visual problems, enuresis, encopresis, behavioural anomalies, delayed pubertal onset and facial dysmorphism. We first mapped the disease locus in the large family (Family I), and by exome sequencing identified homozygousZNF407c.2814_2816dup (p.Val939dup) in four affected members where DNA samples were available. By exome sequencing we detected homozygous c.2405G&amp;gt;T (p.Gly802Val) in the affected member of Family II and compound heterozygous variants c.2884C&amp;gt;G (p.Arg962Gly) and c.3642G&amp;gt;C (p.Lys1214Asn) in the affected member of Family III. Homozygous c.5054C&amp;gt;G (p.Ser1685Trp) has been reported in two brothers with an ID syndrome. Affected individuals we present did not exhibit synophrys, midface hypoplasia, kyphosis, 5th finger camptodactyly, short 4th metatarsals or limited knee mobility observed in the reported family.</description>
  </descriptions>
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