{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T03:19:51Z","timestamp":1777087191418,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T00:00:00Z","timestamp":1637884800000},"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 &amp; Gen Med"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in the ATP binding cassette protein subfamily D member 1 (<jats:italic>ABCD1<\/jats:italic>) gene are known to cause X\u2010linked adrenoleukodystrophy (X\u2010ALD). This study focused on the characteristics of <jats:italic>ABCD1<\/jats:italic> variants in Chinese X\u2010ALD families and elucidated the value of genetic approaches for X\u2010ALD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>68\u00a0male probands diagnosed as X\u2010ALD were screened for <jats:italic>ABCD1<\/jats:italic> variants by the Sanger sequencing of polymerase chain reaction (PCR) products and multiplex ligation\u2010dependent probe amplification (MLPA) combined with long\u2010range PCR. Prenatal diagnosis was performed in 20 foetuses of 17 probands\u2019 mothers. Descriptive statistics were used to summarise the gene variants and prenatal diagnosis characteristics and outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This study allowed the identification of 61 variants occurring in 68 families, including 58\u00a0single nucleotide variants or small deletion\/insertion variants and 3\u00a0large deletions. Three probands with no variants detected by next\u2010generation sequencing were found to have variants by PCR\u2010sequencing. Prenatal diagnosis found that 10 of the 20 foetuses had no variants in <jats:italic>ABCD1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>PCR primers that do not amplify the pseudogenes must be used for PCR\u2010sequencing. MLPA combined with long\u2010range PCR can detect large deletions and insertions, which are usually undetectable by PCR\u2010sequencing. Prenatal diagnosis could help to prevent the birth of infants with X\u2010ALD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1844","type":"journal-article","created":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T14:23:29Z","timestamp":1637936609000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genetic analysis and prenatal diagnosis of 76 Chinese families with X\u2010linked adrenoleukodystrophy"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2791-9773","authenticated-orcid":false,"given":"Siwen","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Central Laboratory Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory Peking University First Hospital Beijing 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