Further delineation of the phenotype of Noonan syndrome with loose anagen hair due to de novo missense variants in the PPP1CB gene

被引：0

作者：

Leenders, Erika ^{[1
]}

Kocherscheid, Luisa ^{[2
]}

Pantaleoni, Francesca ^{[3
]}

Pouvreau, Nathalie ^{[4
]}

Lissewski, Christina ^{[2
]}

Kamphausen, Susanne ^{[2
]}

Brinkmann, Julia ^{[2
]}

Bonnard, Alice ^{[4
]}

Schanze, Denny ^{[2
]}

Dentici, Marialisa ^{[3
]}

Digilio, Maria Cristina ^{[3
]}

Mazzanti, Laura ^{[5
]}

Kayserili, Hulya ^{[6
]}

Simsek-Kiper, Pelin Ozlem ^{[7
]}

Seidel, Heide ^{[8
]}

Kutsche, Kerstin ^{[9
]}

Fleisher, Nicole ^{[10
]}

Koolen, David ^{[1
]}

Chung, Brian Hon Yin ^{[11
]}

Fung, Jasmine

Larson, Austin ^{[12
,13
]}

Minasi, Lysa ^{[14
]}

Hsieh, Tzung-Chien ^{[15
]}

Krawitz, Peter ^{[15
]}

Shinawi, Marwan ^{[16
]}

Van Bever, Yolande ^{[17
]}

Boute, Odile ^{[18
]}

Engels, Hartmut ^{[19
,20
]}

Grootenhaar, Maike ^{[1
]}

Rinne, Tuula ^{[1
]}

Gripp, Karen ^{[21
]}

Cave, Helene ^{[4
]}

Wessels, Marja

Verloes, Alain ^{[4
]}

Tartaglia, Marco ^{[3
]}

Zenker, Martin

机构：

[1] RadboudUMC, Human Genet, Nijmegen, Netherlands

[2] Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany

[3] Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, Rome, Italy

[4] Assistance Publ Hop Paris, Dept Genet, Paris, France

[5] Univ Bologna, St Orsola Univ Hosp, Dept Pediat, Pediat Rare Dis Unit, Bologna, Italy

[6] Koc Univ, Med Genet Dept, Sch Med KUSOM, Istanbul, Turkiye

[7] Hacettepe Univ, Dept Pediat, Ankara, Turkiye

[8] Tech Univ Munich, Inst Human Genet, Klinikum Rechts Isar, Munich, Germany

[9] Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany

[10] FDNA Inc, Boston, MA USA

[11] Univ Hong Kong, Li Ka Shing Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China

[12] Univ Colorado, Sch Med, Aurora, CO USA

[13] Childrens Hosp Colorado, Genet Sect, Dept Pediat, Aurora, CO USA

[14] Pontificia Univ Catolica Goias, Nucleo Pesquisas Replicon, Escola Ciencias Agrarias Biol, Mestrado Genet, Goiania, Go, Brazil

[15] Rhein Friedrich Wilhelms Univ Bonn, Univ Hosp Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany

[16] Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO USA

[17] Erasmus MC, Dept Clin Genet, Sophia Childrens Hosp, Rotterdam, Netherlands

[18] Hop Jeanne Flandre, Serv Genet Clin, CLAD Nord, Lille, France

[19] Univ Bonn, Inst Human Genet, Bonn, Germany

[20] Univ Hosp Bonn, Bonn, Germany

[21] Al DuPont Hosp Children Nemours, Div Med Genet, Dept Pediat, Wilmington, DE USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31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：

EP12.054

引用

页码：233 / 234

页数：2

共 12 条

[1] Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair
Zambrano, Regina M.
Marble, Michael
Chalew, Stuart A.
Lilje, Christian
Vargas, Alfonso
Lacassie, Yves
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (02) : 565 - 567
[2] Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported
Huckstadt, Victoria
Chinton, Josefina
Gomez, Abel
Obregon, Maria Gabriela
Gravina, Luis Pablo
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (04) : 1256 - 1260
[3] A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations in PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair
Gripp, Karen W.
Aldinger, Kimberly A.
Bennett, James T.
Baker, Laura
Tusi, Jessica
Powell-Hamilton, Nina
Stabley, Deborah
Sol-Church, Katia
Timms, Andrew E.
Dobyns, William B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (09) : 2237 - 2247
[4] De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
Ma, Lijiang
Bayram, Yavuz
McLaughlin, Heather M.
Cho, Megan T.
Krokosky, Alyson
Turner, Clesson E.
Lindstrom, Kristin
Bupp, Caleb P.
Mayberry, Katey
Mu, Weiyi
Bodurtha, Joann
Weinstein, Veronique
Zadeh, Neda
Alcaraz, Wendy
Powis, Zoe
Shao, Yunru
Scott, Daryl A.
Lewis, Andrea M.
White, Janson J.
Jhangiani, Shalani N.
Gulec, Elif Yilmaz
Lalani, Seema R.
Lupski, James R.
Retterer, Kyle
Schnur, Rhonda E.
Wentzensen, Ingrid M.
Bale, Sherri
Chung, Wendy K.
HUMAN GENETICS, 2016, 135 (12) : 1399 - 1409
[5] De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
Lijiang Ma
Yavuz Bayram
Heather M. McLaughlin
Megan T. Cho
Alyson Krokosky
Clesson E. Turner
Kristin Lindstrom
Caleb P. Bupp
Katey Mayberry
Weiyi Mu
Joann Bodurtha
Veronique Weinstein
Neda Zadeh
Wendy Alcaraz
Zöe Powis
Yunru Shao
Daryl A. Scott
Andrea M. Lewis
Janson J. White
Shalani N. Jhangiani
Elif Yilmaz Gulec
Seema R. Lalani
James R. Lupski
Kyle Retterer
Rhonda E. Schnur
Ingrid M. Wentzensen
Sherri Bale
Wendy K. Chung
Human Genetics, 2016, 135 : 1399 - 1409
[6] PPP1CB-related Noonan syndrome with loose anagen hair presenting with focal cortical dysplasia and epilepsy
Demmer, Laurie
Mittag, Dana
GENETICS IN MEDICINE, 2022, 24 (03) : S68 - S69
[7] First European case of Noonan syndrome-like disorder with loose anagen hair-2 caused by the recurrent c.146C>G missense variant in PPP1CB: broadening the clinical spectrum
Pizza, Antonella
Minale, Elia Marco Paolo
Venturino, Danilo
De Falco, Luigia
Evangelista, Eloisa
D'Ambrosio, Paola
Nigro, Vincenzo
Fico, Antonio
Piscopo, Carmelo
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 242 - 242
[8] Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene
Zhu, Chen-Hao
Yu, Jin-Yang
Ma, Yin
Dong, Yi
Wu, Zhi-Ying
CEREBELLUM, 2024, 23 (05): : 2197 - 2204
[9] Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
Ikumi Umeki
Tetsuya Niihori
Taiki Abe
Shin-ichiro Kanno
Nobuhiko Okamoto
Seiji Mizuno
Kenji Kurosawa
Keisuke Nagasaki
Makoto Yoshida
Hirofumi Ohashi
Shin-ichi Inoue
Yoichi Matsubara
Ikuma Fujiwara
Shigeo Kure
Yoko Aoki
Human Genetics, 2019, 138 : 21 - 35
[10] Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair
Wang, Qingming
Cheng, Shuangxi
Fu, Youqing
Yuan, Haiming
FRONTIERS IN GENETICS, 2022, 13

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