{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T16:01:30Z","timestamp":1791043290526,"version":"4.1.0"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4902,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Norrie disease is a rare X\u2010linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (<jats:italic>MAOA, MAOB<\/jats:italic>) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy\u2010habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for \u201cchronic hypomania and schizotypal features.\u201d The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.<\/jats:p>","DOI":"10.1002\/ajmg.1320420126","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:06Z","timestamp":1118550786000},"page":"127-134","source":"Crossref","is-referenced-by-count":69,"title":["Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (<i>MAOA<\/i> and <i>MAOB<\/i>) genes"],"prefix":"10.1002","volume":"42","author":[{"given":"Felicity A.","family":"Collins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis L.","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan L.","family":"Reiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine B.","family":"Sims","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G.","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Freund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farouk","family":"Karoum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene H.","family":"Maumenee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0024-3205(90)90030-U"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BFb0034294"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284575"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90039-0"},{"key":"e_1_2_1_6_1","first-page":"37","article-title":"Some properties of semicarbazide sensitive amine oxidases","volume":"23","author":"Callingham BA","year":"1987","journal-title":"J Neurol Trans"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00405.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198704093161506"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.73"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1385\/0-89603-095-4:153"},{"key":"e_1_2_1_11_1","first-page":"575","article-title":"Molecular cytogenetics: towards dissection of the contiguous gene syndrome","volume":"43","author":"Emanuel BS","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpsyc.1978.01770310043002"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_14_1","first-page":"615","article-title":"Genetic and physical mapping of markers localised Xp11.0\u2010Xp22.3 on the human X chromosome. 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