Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations

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MARC

Fältnamn	Indikatorer	Metadata
000		05122naa a2200985 4500
001		oai:lup.lub.lu.se:49f52110-ad19-426b-ad84-96779cc945b2
003		SwePub
008		160401s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/17271652 URI
024	7	a https://doi.org/10.1002/humu.213282 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Johnston, Jennifer J.4 aut
245	1 0	a Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
264		c 2010-07-29
264	1	b Hindawi Limited,c 2010
520		a A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a Pallister-Hall syndrome
653		a GLI3
653		a Greig syndrome
653		a oral-facial-digital
653		a syndrome
700	1	a Sapp, Julie C.4 aut
700	1	a Turner, Joyce T.4 aut
700	1	a Amor, David4 aut
700	1	a Aftimos, Salim4 aut
700	1	a Aleck, Kyrieckos A.4 aut
700	1	a Bocian, Maureen4 aut
700	1	a Bodurtha, Joann N.4 aut
700	1	a Cox, Gerald F.4 aut
700	1	a Curry, Cynthia J.4 aut
700	1	a Day, Ruth4 aut
700	1	a Donnai, Dian4 aut
700	1	a Field, Michael4 aut
700	1	a Fujiwara, Ikuma4 aut
700	1	a Gabbett, Michael4 aut
700	1	a Gal, Moran4 aut
700	1	a Graham, John M., Jr.4 aut
700	1	a Hedera, Peter4 aut
700	1	a Hennekam, Raoul C. M.4 aut
700	1	a Hersh, Joseph H.4 aut
700	1	a Hopkin, Robert J.4 aut
700	1	a Kayserili, Hulya4 aut
700	1	a Kidd, Alexa M. J.4 aut
700	1	a Kimonis, Virginia4 aut
700	1	a Lin, Angela E.4 aut
700	1	a Lynch, Sally Ann4 aut
700	1	a Maisenbacher, Melissa4 aut
700	1	a Mansour, Sahar4 aut
700	1	a McGaughran, Julie4 aut
700	1	a Mehta, Lakshmi4 aut
700	1	a Murphy, Helen4 aut
700	1	a Raygada, Margarita4 aut
700	1	a Robin, Nathaniel H.4 aut
700	1	a Rope, Alan F.4 aut
700	1	a Rosenbaum, Kenneth N.4 aut
700	1	a Schaefer, G. Bradley4 aut
700	1	a Shealy, Amy4 aut
700	1	a Smith, Wendy4 aut
700	1	a Soller, Mariau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-mso
700	1	a Sommer, Annmarie4 aut
700	1	a Stalker, Heather J.4 aut
700	1	a Steiner, Bernhard4 aut
700	1	a Stephan, Mark J.4 aut
700	1	a Tilstra, David4 aut
700	1	a Tomkins, Susan4 aut
700	1	a Trapane, Pamela4 aut
700	1	a Tsai, Anne Chun-Hui4 aut
700	1	a Van Allen, Margot I.4 aut
700	1	a Vasudevan, Pradeep C.4 aut
700	1	a Zabel, Bernhard4 aut
700	1	a Zunich, Janice4 aut
700	1	a Black, Graeme C. M.4 aut
700	1	a Biesecker, Leslie G.4 aut
710	2	a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org
773	0	t Human Mutationd : Hindawi Limitedg 31:10, s. 1142-1154q 31:10<1142-1154x 1059-7794
856	4	u http://dx.doi.org/10.1002/humu.21328y FULLTEXT
856	4	u https://europepmc.org/articles/pmc2947617?pdf=render
856	4 8	u https://lup.lub.lu.se/record/1727165
856	4 8	u https://doi.org/10.1002/humu.21328

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By the author/editor: Johnston, Jennif ...; Sapp, Julie C.; Turner, Joyce T.; Amor, David; Aftimos, Salim; Aleck, Kyrieckos ...; show more...; Bocian, Maureen; Bodurtha, Joann ...; Cox, Gerald F.; Curry, Cynthia J ...; Day, Ruth; Donnai, Dian; Field, Michael; Fujiwara, Ikuma; Gabbett, Michael; Gal, Moran; Graham, John M., ...; Hedera, Peter; Hennekam, Raoul ...; Hersh, Joseph H.; Hopkin, Robert J ...; Kayserili, Hulya; Kidd, Alexa M. J ...; Kimonis, Virgini ...; Lin, Angela E.; Lynch, Sally Ann; Maisenbacher, Me ...; Mansour, Sahar; McGaughran, Juli ...; Mehta, Lakshmi; Murphy, Helen; Raygada, Margari ...; Robin, Nathaniel ...; Rope, Alan F.; Rosenbaum, Kenne ...; Schaefer, G. Bra ...; Shealy, Amy; Smith, Wendy; Soller, Maria; Sommer, Annmarie; Stalker, Heather ...; Steiner, Bernhar ...; Stephan, Mark J.; Tilstra, David; Tomkins, Susan; Trapane, Pamela; Tsai, Anne Chun- ...; Van Allen, Margo ...; Vasudevan, Prade ...; Zabel, Bernhard; Zunich, Janice; Black, Graeme C. ...; Biesecker, Lesli ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Human Mutation

By the university: Lund University

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