{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T10:47:55Z","timestamp":1783334875484,"version":"3.54.6"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,19]],"date-time":"2022-08-19T00:00:00Z","timestamp":1660867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2022,10]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Recent research found that biallelic HPDL<\/jats:italic> variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL<\/jats:italic> variants may also be incomplete. The phenotype of NEDSWMA is characterized by severe neurodevelopmental delay, brain atrophy, and spasticity in infancy.<\/jats:p><\/jats:sec>Methods<\/jats:title>Exome sequencing was used in the proband and his parents to identify the underlying genetic cause. Candidate mutations were validated by classic Sanger sequencing. The clinical presentation of the infant who carried HPDL<\/jats:italic> variants was summarized.<\/jats:p><\/jats:sec>Results<\/jats:title>We identified a novel compound heterozygous variants in HPDL<\/jats:italic>, c.995delC (p.T332Mfs) and c.1051C>T (p.Q351*) in the patient a 6\u2010month\u2010old boy presenting with global developmental delay, seizures, hypertonia, and limb spasticity. Brain magnetic resonance imaging (MRI) showed thin corpus callosum, ventriculomegaly, white matter volume reduction, bilateral frontotemporal subarachnoid widening, and sulcus deeping.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our results provided important information for the associations of variants in HPDL<\/jats:italic> with the neurodevelopmental disorder in infants, and broaden the genetic spectrum of HPDL<\/jats:italic>\u2010related disease. This is the second report of the HPDL<\/jats:italic> mutation causing infant neurodevelopmental disorders in a Chinese population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2025","type":"journal-article","created":{"date-parts":[[2022,8,20]],"date-time":"2022-08-20T00:40:18Z","timestamp":1660956018000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["HPDL<\/i> mutations identified by exome sequencing are associated with infant neurodevelopmental disorders"],"prefix":"10.1002","volume":"10","author":[{"given":"Yanhong","family":"Wang","sequence":"first","affiliation":[{"name":"Henan Key Laboratory of Children's Genetics and Metabolic Diseases Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University Zhengzhou China"},{"name":"Department of Rehabilitation Medicine Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Zheng","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Children's Genetics and Metabolic Diseases Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Feng","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Children's Genetics and Metabolic Diseases Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoge","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging, Henan Children's Hospital, Zhengzhou Children's Hospital Children's Hospital Affiliated to Zhengzhou University Zhengzhou 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