{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T19:29:39Z","timestamp":1790105379547,"version":"4.0.1"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>ASNS<\/jats:italic>\n                      (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital microcephaly, progressive encephalopathy, severe intellectual disability, and intractable seizures.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>Clinical characteristics of the patient were collected. Exome sequencing was used for the identification of variants. Sanger sequencing was used to confirm the variant in the target region. The structure of the protein was checked using the DynaMut2 web server.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The proband is an 11\u2010year\u2010old Iranian\u2010Azeri girl with primary microcephaly and severe intellectual disability in a family with a consanguineous marriage. Symptoms emerged around the 10\u201320th days of life, when refractory epileptic gaze and unilateral tonic\u2013clonic seizures initiated without any provoking factor such as fever. A brain MRI revealed no abnormalities except for brain atrophy. The karyotype was normal. Using exome sequencing, we identified a novel homozygous variant of thymine to adenine (NM_001673.5:c.538T&gt;A) in the\n                      <jats:italic>ASNS<\/jats:italic>\n                      gene. Both parents had a heterozygous variant in this location. Subsequently, Sanger sequencing confirmed this variant. We also reviewed the clinical manifestations and MRI findings of the previously reported patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In the present study, a novel homozygous variant was recognized in the\n                      <jats:italic>ASNS<\/jats:italic>\n                      gene in an Iranian\u2010Azeri girl manifesting typical ASNSD symptoms, particularly intellectual disability and microcephaly. This study expands the mutation spectrum of ASNSD and reviews previously reported patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2424","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T07:43:48Z","timestamp":1711611828000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel variant in\n                    <scp>\n                      <i>ASNS<\/i>\n                    <\/scp>\n                    gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-4716-8655","authenticated-orcid":false,"given":"Mohammad","family":"Jahanpanah","sequence":"first","affiliation":[{"name":"Department of Genetics and Pathology Ardabil University of Medical Sciences  Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5492-0185","authenticated-orcid":false,"given":"Diana","family":"Mokhtari","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology Ardabil University of Medical Sciences  Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haleh","family":"Mokaber","sequence":"additional","affiliation":[{"name":"Department of Biology, Ardabil Branch Islamic Azad University  Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Arish","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology Ardabil University of Medical Sciences  Ardabil Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farzad","family":"Ahmadabadi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Research Center, Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3026-7326","authenticated-orcid":false,"given":"Behzad","family":"Davarnia","sequence":"additional","affiliation":[{"name":"Department of Genetics and Pathology Ardabil University of Medical Sciences  Ardabil 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