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

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

Metadata
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Citation
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Mar 30. doi: 10.1002/ajmg.a.62124.
Abstract
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS. Keywords: KMT2A; MLL1; Wiedemann-Steiner syndrome; hypertrichosis; syndromic intellectual disability; syndromic short stature.
Additional Links
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62124
Rights
© 2021 Wiley Periodicals LLC.
ae974a485f413a2113503eed53cd6c53
10.1002/ajmg.a.62124
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English Journal Articles (Peer Reviewed)

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