De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June Anne Gold; Soo Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu

doi:10.1186/s13073-019-0623-0

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Francesco Vetrini
, Shane McKee
, Jill A. Rosenfeld
, Mohnish Suri
, Andrea M. Lewis
, Kimberly Margaret Nugent
, Elizabeth Roeder
, Rebecca O. Littlejohn
, Sue Holder
, Wenmiao Zhu
, Joseph T. Alaimo
, Brett Graham
, Jill M. Harris
, James B. Gibson
, Matthew Pastore
, Kim L. McBride
, Makanko Komara
, Lihadh Al-Gazali
, Aisha Al Shamsi
, Elizabeth A. Fanning

Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June Anne Gold, Soo Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

Research output: Contribution to journal › Article › peer-review

Original language	English
Article number	12
Journal	Genome Medicine
Volume	11
Issue number	1
DOIs	https://doi.org/10.1186/s13073-019-0623-0
State	Published - Feb 28 2019

ASJC Scopus Subject Areas

Molecular Medicine
Molecular Biology
Genetics
Genetics(clinical)

Keywords

22q13
Deletions
Haploinsufficiency
Loss-of-function variants
Neurodevelopmental disorders
Smith-Magenis syndrome
TCF20

Access to Document

10.1186/s13073-019-0623-0

OpenUrl availability

Full text

Cite this

Vetrini, F., McKee, S., Rosenfeld, J. A., Suri, M., Lewis, A. M., Nugent, K. M., Roeder, E., Littlejohn, R. O., Holder, S., Zhu, W., Alaimo, J. T., Graham, B., Harris, J. M., Gibson, J. B., Pastore, M., McBride, K. L., Komara, M., Al-Gazali, L., Al Shamsi, A., ... Liu, P. (2019). De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Medicine, 11(1), Article 12. https://doi.org/10.1186/s13073-019-0623-0

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. / Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A. et al.
In: Genome Medicine, Vol. 11, No. 1, 12, 28.02.2019.

Research output: Contribution to journal › Article › peer-review

Vetrini, F, McKee, S, Rosenfeld, JA, Suri, M, Lewis, AM, Nugent, KM, Roeder, E, Littlejohn, RO, Holder, S, Zhu, W, Alaimo, JT, Graham, B, Harris, JM, Gibson, JB, Pastore, M, McBride, KL, Komara, M, Al-Gazali, L, Al Shamsi, A, Fanning, EA, Wierenga, KJ, Scott, DA, Ben-Neriah, Z, Meiner, V, Cassuto, H, Elpeleg, O, Holder, JL, Burrage, LC, Seaver, LH, Van Maldergem, L, Mahida, S, Soul, JS, Marlatt, M, Matyakhina, L, Vogt, J, Gold, JA, Park, SM, Varghese, V, Lampe, AK, Kumar, A, Lees, M, Holder-Espinasse, M, McConnell, V, Bernhard, B, Blair, E, Harrison, V, Muzny, DM, Gibbs, RA, Elsea, SH, Posey, JE, Bi, W, Lalani, S, Xia, F, Yang, Y, Eng, CM, Lupski, JR & Liu, P 2019, 'De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome', Genome Medicine, vol. 11, no. 1, 12. https://doi.org/10.1186/s13073-019-0623-0

@article{33b41f965d824b3d9232d3c4671cae47,

title = "De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome",

keywords = "22q13, Deletions, Haploinsufficiency, Loss-of-function variants, Neurodevelopmental disorders, Smith-Magenis syndrome, TCF20",

author = "Francesco Vetrini and Shane McKee and Rosenfeld, \{Jill A.\} and Mohnish Suri and Lewis, \{Andrea M.\} and Nugent, \{Kimberly Margaret\} and Elizabeth Roeder and Littlejohn, \{Rebecca O.\} and Sue Holder and Wenmiao Zhu and Alaimo, \{Joseph T.\} and Brett Graham and Harris, \{Jill M.\} and Gibson, \{James B.\} and Matthew Pastore and McBride, \{Kim L.\} and Makanko Komara and Lihadh Al-Gazali and \{Al Shamsi\}, Aisha and Fanning, \{Elizabeth A.\} and Wierenga, \{Klaas J.\} and Scott, \{Daryl A.\} and Ziva Ben-Neriah and Vardiella Meiner and Hanoch Cassuto and Orly Elpeleg and Holder, \{J. Lloyd\} and Burrage, \{Lindsay C.\} and Seaver, \{Laurie H.\} and \{Van Maldergem\}, Lionel and Sonal Mahida and Soul, \{Janet S.\} and Margaret Marlatt and Ludmila Matyakhina and Julie Vogt and Gold, \{June Anne\} and Park, \{Soo Mi\} and Vinod Varghese and Lampe, \{Anne K.\} and Ajith Kumar and Melissa Lees and Muriel Holder-Espinasse and Vivienne McConnell and Birgitta Bernhard and Ed Blair and Victoria Harrison and Muzny, \{Donna M.\} and Gibbs, \{Richard A.\} and Elsea, \{Sarah H.\} and Posey, \{Jennifer E.\} and Weimin Bi and Seema Lalani and Fan Xia and Yaping Yang and Eng, \{Christine M.\} and Lupski, \{James R.\} and Pengfei Liu",

note = "Publisher Copyright: {\textcopyright} 2019 The Author(s).",

year = "2019",

month = feb,

day = "28",

doi = "10.1186/s13073-019-0623-0",

language = "English",

volume = "11",

journal = "Genome Medicine",

issn = "1756-994X",

number = "1",

}

TY - JOUR

T1 - De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

AU - Vetrini, Francesco

AU - McKee, Shane

AU - Rosenfeld, Jill A.

AU - Suri, Mohnish

AU - Lewis, Andrea M.

AU - Nugent, Kimberly Margaret

AU - Roeder, Elizabeth

AU - Littlejohn, Rebecca O.

AU - Holder, Sue

AU - Zhu, Wenmiao

AU - Alaimo, Joseph T.

AU - Graham, Brett

AU - Harris, Jill M.

AU - Gibson, James B.

AU - Pastore, Matthew

AU - McBride, Kim L.

AU - Komara, Makanko

AU - Al-Gazali, Lihadh

AU - Al Shamsi, Aisha

AU - Fanning, Elizabeth A.

AU - Wierenga, Klaas J.

AU - Scott, Daryl A.

AU - Ben-Neriah, Ziva

AU - Meiner, Vardiella

AU - Cassuto, Hanoch

AU - Elpeleg, Orly

AU - Holder, J. Lloyd

AU - Burrage, Lindsay C.

AU - Seaver, Laurie H.

AU - Van Maldergem, Lionel

AU - Mahida, Sonal

AU - Soul, Janet S.

AU - Marlatt, Margaret

AU - Matyakhina, Ludmila

AU - Vogt, Julie

AU - Gold, June Anne

AU - Park, Soo Mi

AU - Varghese, Vinod

AU - Lampe, Anne K.

AU - Kumar, Ajith

AU - Lees, Melissa

AU - Holder-Espinasse, Muriel

AU - McConnell, Vivienne

AU - Bernhard, Birgitta

AU - Blair, Ed

AU - Harrison, Victoria

AU - Muzny, Donna M.

AU - Gibbs, Richard A.

AU - Elsea, Sarah H.

AU - Posey, Jennifer E.

AU - Bi, Weimin

AU - Lalani, Seema

AU - Xia, Fan

AU - Yang, Yaping

AU - Eng, Christine M.

AU - Lupski, James R.

AU - Liu, Pengfei

PY - 2019/2/28

Y1 - 2019/2/28

KW - 22q13

KW - Deletions

KW - Haploinsufficiency

KW - Loss-of-function variants

KW - Neurodevelopmental disorders

KW - Smith-Magenis syndrome

KW - TCF20

UR - https://www.scopus.com/pages/publications/85062463171

UR - https://www.scopus.com/pages/publications/85062463171#tab=citedBy

U2 - 10.1186/s13073-019-0623-0

DO - 10.1186/s13073-019-0623-0

M3 - Article

C2 - 30819258

AN - SCOPUS:85062463171

SN - 1756-994X

VL - 11

JO - Genome Medicine

JF - Genome Medicine

IS - 1

M1 - 12

ER -

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

ASJC Scopus Subject Areas

Keywords

Access to Document

OpenUrl availability

Other files and links

Cite this