{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:50:14Z","timestamp":1788306614229,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T00:00:00Z","timestamp":1549411200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873633"],"award-info":[{"award-number":["81873633"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009564","name":"Health and Family Planning Commission of Sichuan Province","doi-asserted-by":"publisher","award":["grant number 18PJ047"],"award-info":[{"award-number":["grant number 18PJ047"]}],"id":[{"id":"10.13039\/501100009564","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009109","name":"Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009109","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Heterozygous mutations in the AT\u2010hook DNA\u2010binding motif containing one (<jats:italic>AHDC1<\/jats:italic>, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia\u2010Gibbs syndrome (OMIM #615829). Xia\u2010Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Description of the clinical materials of two Chinese boys who were diagnosed with Xia\u2010Gibbs syndrome based on clinical presentations and next generation sequencing. Review of clinical features and <jats:italic>AHDC1<\/jats:italic> mutations in previously reported Xia\u2010Gibbs syndrome patients together with our two new patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The Xia\u2010Gibbs syndrome patients exhibited short stature, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features. Next generation sequencing revealed de novo heterozygous variants in <jats:italic>AHDC1<\/jats:italic> gene. In addition, laboratory test revealed partial growth hormone deficiency. Both patients underwent growth hormone replacement therapy for 24 and 9\u00a0months, respectively, and exhibited good response to the treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of Xia\u2010Gibbs syndrome patients to be treated with growth hormone. Review of previously reported Xia\u2010Gibbs syndrome patient indicated that short stature is a frequent feature of this condition, but its underlying cause needs to be further investigated.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.596","type":"journal-article","created":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T07:30:16Z","timestamp":1549524616000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Two Chinese Xia\u2010Gibbs syndrome patients with partial growth hormone deficiency"],"prefix":"10.1002","volume":"7","author":[{"given":"Xinran","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism Chengdu Women\u2019s and Children\u2019s Central Hospital Chengdu 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Pediatric Endocrinology and Genetic Metabolism Chengdu Women\u2019s and Children\u2019s Central Hospital Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Gou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism Chengdu Women\u2019s and Children\u2019s Central Hospital Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism Chengdu Women\u2019s and Children\u2019s Central Hospital Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunzhu","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism Chengdu Women\u2019s and Children\u2019s Central Hospital Chengdu 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