Literature DB >> 20803650

Wiedemann-Steiner syndrome: three further cases.

Rainer Koenig1, Peter Meinecke, Alma Kuechler, Dieter Schäfer, Dietmar Müller.   

Abstract

We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. These patients expand the phenotype of the Wiedemann-Steiner syndrome and delineate it as an entity.

Entities:  

Mesh：

Year:  2010        PMID： 20803650     DOI： 10.1002/ajmg.a.33587

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  11 in total

1.  Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Authors:  Dora Steel; Vincenzo Salpietro; Rahul Phadke; Matthew Pitt; Giulia Gentile; Ahmed Massoud; Leigh Batten; Anu Bashamboo; Ken Mcelreavey; Anand Saggar; Maria Kinali
Journal:  J Genet       Date:  2015-12       Impact factor: 1.166

2.  Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Authors:  Nicolas Lebrun; Irina Giurgea; Alice Goldenberg; Anne Dieux; Alexandra Afenjar; Jamal Ghoumid; Bertrand Diebold; Léo Mietton; Audrey Briand-Suleau; Pierre Billuart; Thierry Bienvenu
Journal:  Eur J Hum Genet       Date:  2017-12-04       Impact factor: 4.246

3.  De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Authors:  Wendy D Jones; Dimitra Dafou; Meriel McEntagart; Wesley J Woollard; Frances V Elmslie; Muriel Holder-Espinasse; Melita Irving; Anand K Saggar; Sarah Smithson; Richard C Trembath; Charu Deshpande; Michael A Simpson
Journal:  Am J Hum Genet       Date:  2012-07-12       Impact factor: 11.025

4.  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Authors:  Sarah E Sheppard; Ian M Campbell; Margaret H Harr; Nina Gold; Dong Li; Hans T Bjornsson; Julie S Cohen; Jill A Fahrner; Ali Fatemi; Jacqueline R Harris; Catherine Nowak; Cathy A Stevens; Katheryn Grand; Margaret Au; John M Graham; Pedro A Sanchez-Lara; Miguel Del Campo; Marilyn C Jones; Omar Abdul-Rahman; Fowzan S Alkuraya; Jennifer A Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D Kaplan; Nada Derar; Karen W Gripp; Natalie Hauser; A Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J Nowaczyk; Zuhair Rahbeeni; Shay Ben-Shachar; Joseph T Shieh; Anne Slavotinek; Andrew K Sobering; Mary-Alice Abbott; Dawn C Allain; Louise Amlie-Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A Bernstein; Cheryl Cytrynbaum; Brian Hon-Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A Flores-Daboub; Holly Dubbs; Carolyn A Felix; Chin-To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui-Yan Kwok; Rebekah K Jobling; Amy E Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D Ross McLeod; Frank D Mentch; Kelly Minks; Colleen Muraresku; Stanley F Nelson; Patrizia Porazzi; Pavel N Pichurin; Nina N Powell-Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J Zand; Marni J Falk; Hakon Hakonarson; Elaine H Zackai; Fabiola Quintero-Rivera
Journal:  Am J Med Genet A       Date:  2021-03-30       Impact factor: 2.578

Review 5.  Reprogramming of the epigenome in neurodevelopmental disorders.

Authors:  Khadija D Wilson; Elizabeth G Porter; Benjamin A Garcia
Journal:  Crit Rev Biochem Mol Biol       Date:  2021-10-02       Impact factor: 8.697

6.  De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Authors:  Samuel P Strom; Reymundo Lozano; Hane Lee; Naghmeh Dorrani; John Mann; Patricia F O'Lague; Nicole Mans; Joshua L Deignan; Eric Vilain; Stanley F Nelson; Wayne W Grody; Fabiola Quintero-Rivera
Journal:  BMC Med Genet       Date:  2014-05-01       Impact factor: 2.103

7.  Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

Authors:  Diana Ramirez-Montaño; Harry Pachajoa
Journal:  Colomb Med (Cali)       Date:  2019-03-30

Review 8.  Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders.

Authors:  Merrick S Fallah; Dora Szarics; Clara M Robson; James H Eubanks
Journal:  Front Genet       Date:  2021-01-08       Impact factor: 4.599

9.  Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.

Authors:  Xiong Wang; Guijiao Zhang; Yanjun Lu; Xiaoping Luo; Wei Wu
Journal:  Mol Genet Genomic Med       Date:  2020-12-15       Impact factor: 2.183

10.  Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

Authors:  Liu Jinxiu; Liang Shuimei; Xue Ming; Liu Cs Jonathan; Liu Xiangju; Duan Wenyuan
Journal:  Medicine (Baltimore)       Date:  2020-04       Impact factor: 1.817
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