Phenotypic spectrum of SPECC1L mutations encompasses Teebi hypertelorism syndrome but not Opitz BBBG syndrome: report of new families and critical review of the literature

被引：0

作者：

Verloes, A. ^{[1
]}

Haye, D. ^{[2
]}

Toutain, A. ^{[3
]}

Bonneau, D. ^{[4
]}

Lehalle, D. ^{[5
]}

Caillier, P. ^{[5
]}

Drunat, S. ^{[2
]}

Lund, I. ^{[6
]}

Bhoj, E. ^{[7
,8
]}

Bogaard, P. ^{[9
]}

Leenskjold, S. ^{[10
]}

Zackay, E. ^{[7
,8
]}

Li, D. ^{[7
,8
]}

Hakonarson, H. ^{[7
,8
]}

Petersen, M. ^{[6
]}

Nielsen, I. ^{[6
]}

机构：

[1] Clin Genet Dept, Paris, France

[2] R Debre Hosp, Dept Clin Genet, Paris, France

[3] Bretonneau Univ Hosp, Tours, France

[4] Univ Hosp, Dept Clin Genet, Angers, France

[5] Children Univ Hosp, Dijon, France

[6] Aalborg Univ Hosp, Dept Clin Genet, Aalborg, Denmark

[7] Childrens Hosp Philadelphia, Dept Genet, Philadelphia, PA 19104 USA

[8] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA

[9] Aalborg Univ Hosp, Dept Pathol, Aalborg, Denmark

[10] Aalborg Univ Hosp, Dept Gynecol & Obstet, Aalborg, Denmark

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P11.107C

引用

页码：501 / 501

页数：1

共 14 条

[1] Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
Bhoj, Elizabeth J.
Li, Dong
Harr, Margaret H.
Tian, Lifeng
Wang, Tiancheng
Zhao, Yan
Qiu, Haijun
Kim, Cecilia
Hoffman, Jodi D.
Hakonarson, Hakon
Zackai, Elaine H.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (11) : 2497 - 2502
[2] A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum
Zhang, Ting
Wu, Qian
Zhu, Ling
Wu, Dingwen
Yang, Rulai
Qi, Ming
Huang, Xinwen
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (04)
[3] Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Verloes, A.
Haye, D.
Toutain, A.
Bonneau, D.
Nielsen, I. Kibaek
Lund, I. Bay
Bogaard, P.
Leenskjold, S.
Karaer, K.
Wild, K. T.
Grand, K. L.
Astiazaran, M. C.
Gonzalez-Nieto, L. A.
Carvalho, A.
Lehalle, D.
Amudhavalli, S. M.
Repnikova, E.
Saunders, C.
Thiffault, I.
Thiffault, I.
Saadi, I.
Li, D.
Hakonarson, H.
Vial, Y.
Zackai, E.
Callier, P.
Drunat, S.
Bhoj, E. E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1517 - 1518
[4] Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Bhoj, Elizabeth J.
Haye, Damien
Toutain, Annick
Bonneau, Dominique
Nielsen, Irene Kibaek
Lund, Ida Bay
Bogaard, Pauline
Leenskjold, Stine
Karaer, Kadri
Wild, Katherine T.
Grand, Katheryn L.
Astiazaran, Mirena C.
Gonzalez-Nieto, Luis A.
Carvalho, Ana
Lehalle, Daphne
Amudhavalli, Shivarajan M.
Repnikova, Elena
Saunders, Carol
Thiffault, Isabelle
Saadi, Irfan
Li, Dong
Hakonarson, Hakon
Vial, Yoann
Zackai, Elaine
Callier, Patrick
Drunat, Severine
Verloes, Alain
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (12)
[5] SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
Migliore, Chiara
Vendramin, Anna
McKee, Shane
Prontera, Paolo
Faravelli, Francesca
Sachdev, Rani
Dias, Patricia
Mascaro, Martina
Licastro, Danilo
Meroni, Germana
GENES, 2022, 13 (02)
[6] Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature
P. Y. Billie Au
Caitlin Goedhart
Marcia Ferguson
Jeroen Breckpot
Koenraad Devriendt
Klaas Wierenga
Elizabeth Fanning
Dorothy K. Grange
Gail E. Graham
Carolina Galarreta
Marilyn C. Jones
Usha Kini
Helen Stewart
Jillian S. Parboosingh
Antonie D. Kline
A. Micheil Innes
European Journal of Human Genetics, 2018, 26 : 1272 - 1281
[7] Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Kruszka, Paul
Li, Dong
Harr, Margaret H.
Wilson, Nathan R.
Swarr, Daniel
McCormick, Elizabeth M.
Chiavacci, Rosetta M.
Li, Mindy
Martinez, Ariel F.
Hart, Rachel A.
McDonald-McGinn, Donna M.
Deardorff, Matthew A.
Falk, Marni J.
Allanson, Judith E.
Hudson, Cindy
Johnson, John P.
Saadi, Irfan
Hakonarson, Hakon
Muenke, Maximilian
Zackai, Elaine H.
JOURNAL OF MEDICAL GENETICS, 2015, 52 (02) : 104 - 110
[8] Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature
Gao, Fenqi
Zhao, Xiu
Cao, Bingyan
Fan, Xin
Li, Xiaoqiao
Li, Lele
Sui, Shengbin
Su, Zhe
Gong, Chunxiu
JOURNAL OF PERSONALIZED MEDICINE, 2022, 12 (03):
[9] Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
Au, P. Y. Billie
Goedhart, Caitlin
Ferguson, Marcia
Breckpot, Jeroen
Devriendt, Koenraad
Wierenga, Klaas
Fanning, Elizabeth
Grange, Dorothy K.
Graham, Gail E.
Galarreta, Carolina
Jones, Marilyn C.
Kini, Usha
Stewart, Helen
Parboosingh, Jillian S.
Kline, Antonie D.
Innes, A. Micheil
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (09) : 1272 - 1281
[10] Genotypic and Phenotypic Features of BAP1 Cancer Syndrome A Report of 8 New Families and Review of Cases in the Literature
Haugh, Alexandra M.
Njauw, Ching-Ni
Bubley, Jeffrey A.
Verzi, Anna Elisa
Zhang, Bin
Kudalkar, Emily
VandenBoom, Timothy
Walton, Kara
Swick, Brian L.
Kumar, Raj
Rana, Huma Q.
Cochrane, Sarah
McCormick, Shelley R.
Shea, Christopher R.
Tsao, Hensin
Gerami, Pedram
JAMA DERMATOLOGY, 2017, 153 (10) : 999 - 1006

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