{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:19:11Z","timestamp":1790039951002,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T00:00:00Z","timestamp":1427932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Goldberg\u2013Shprintzen megacolon syndrome (GOSHS) (OMIM 609460) is characterized by a combination of learning difficulties, characteristic dysmorphic features and Hirschsprung's disease. Variable clinical features include iris coloboma, congenital heart defects and central nervous system abnormalities, in particular polymicrogyria. GOSHS has been attributed to recessive mutations in <jats:italic>KIAA1279<\/jats:italic>, encoding kinesin family member (KIF)\u2010binding protein (KBP) with a crucial role in neuronal microtubule dynamics. Here we report on a 7\u2010year\u2010old girl with GOSHS as a result of a homozygous deletion of exons 5 and 6 of the <jats:italic>KIAA1279<\/jats:italic> gene. She had been referred with the suspicion of an underlying neuromuscular disorder before the genetic diagnosis was established, prompted by the findings of motor developmental delay, hypotonia, ptosis and absent reflexes. Neurophysiological studies revealed unequivocal evidence of a peripheral axonal sensory motor neuropathy. We hypothesize that an axonal sensory motor neuropathy may be part of the phenotypical spectrum of <jats:italic>KIAA1279<\/jats:italic>\u2010related GOSHS, probably reflecting the effects of reduced KBP protein expression on peripheral neuronal function. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36873","type":"journal-article","created":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T22:26:12Z","timestamp":1428013572000},"page":"1300-1304","source":"Crossref","is-referenced-by-count":28,"title":["Goldberg\u2013Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy"],"prefix":"10.1002","volume":"167","author":[{"given":"Hormos Salimi","family":"Dafsari","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology Evelina's Children Hospital Guy's &amp; St. Thomas' Hospital NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Byrne","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Evelina's Children Hospital Guy's &amp; St. Thomas' Hospital NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Evelina's Children Hospital Guy's &amp; St. Thomas' Hospital NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Pitt","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology Great Ormond Street Hospital for Children London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan DH","family":"Jongbloed","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen University Medical Center Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Flinter","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Guy's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Evelina's Children Hospital Guy's &amp; St. Thomas' Hospital NHS Foundation Trust London UK"},{"name":"Randall Division for Cell and Molecular Biophysics Muscle Signalling Section King's College London UK"},{"name":"Department of Basic and Clinical Neuroscience IoPPN  King's College London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.41"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/431244"},{"key":"e_1_2_5_4_1","first-page":"485","article-title":"A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg\u2010Shprintzen syndrome)","volume":"36","author":"Brooks AS","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.4161\/worm.21564"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt083"},{"key":"e_1_2_5_7_1","first-page":"185","article-title":"Hirschsprung megacolon and cleft palate in two sibs","volume":"1","author":"Goldberg RB","year":"1981","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.012377"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2013.11.007"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.086470"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35423"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410211"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00363-4"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36873","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36873","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36873","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:45:57Z","timestamp":1696643157000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36873"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,2]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.a.36873"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36873","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,2]]}}}