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Scattered familial cases have been found, revealing some genetic variants. However, most of the previous research studies involved an affected sibling, and the gene spectra of the patients\u2019 entire family have rarely been reported. We conducted a study of a family consisting of a PSIS patient with his unaffected sibling and healthy parents of Han Chinese background using whole-genome sequencing. Bioinformatic analysis was carried out, and mutations related to PSIS, single-nucleotide variants (SNVs), insertion-deletion (InDELs), and structural variations (SVs) in all the four samples were filtered. After Sanger sequencing, we confirmed the variants obtained and selected three candidate genes for functional verification. The gene variations in this boy with PSIS and his lineal relatives are reported herein; <jats:italic>de novo<\/jats:italic> sequencing revealed that the <jats:italic>NBPF9<\/jats:italic> gene may be involved in the pathogenesis of PSIS.<\/jats:p>","DOI":"10.1155\/2020\/5401738","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T23:31:10Z","timestamp":1595115070000},"page":"1-9","source":"Crossref","is-referenced-by-count":6,"title":["NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5697-0194","authenticated-orcid":true,"given":"Cheng-Zhi","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Endocrinology, The First Medical Center of PLA General Hospital, Beijing 100853, China"},{"name":"Department of Endocrinology, Sun Yat-Sen Memorial Hospital, Sun 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