Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation (vol 21, pg 764, 2019)

被引：1

作者：

Koczkowska, Magdalena ^{[1
]}

Callens, Tom ^{[1
]}

Gomes, Alicia ^{[1
]}

Sharp, Angela ^{[1
]}

Chen, Yunjia ^{[1
]}

Hicks, Alesha D. ^{[1
]}

Aylsworth, Arthur S. ^{[2
,3
]}

Azizi, Amedeo A. ^{[4
]}

Basel, Donald G. ^{[5
]}

Bellus, Gary ^{[6
]}

Bird, Lynne M. ^{[7
,8
]}

Blazo, Maria A. ^{[9
]}

Burke, Leah W. ^{[10
]}

Cannon, Ashley ^{[1
]}

Collins, Felicity ^{[11
]}

DeFilippo, Colette ^{[12
]}

Denayer, Ellen ^{[13
]}

Digilio, Maria C. ^{[14
]}

Dills, Shelley K. ^{[15
]}

Dosa, Laura ^{[16
]}

Greenwood, Robert S. ^{[17
]}

Griffis, Cristin ^{[5
]}

Gupta, Punita ^{[18
]}

Hachen, Rachel K. ^{[19
]}

Hernandez-Chico, Concepcion ^{[20
,21
]}

Janssens, Sandra ^{[22
]}

Jones, Kristi J. ^{[11
]}

Jordan, Justin T. ^{[23
,24
]}

Kannu, Peter ^{[25
]}

Korf, Bruce R. ^{[1
]}

Lewis, Andrea M. ^{[26
]}

Listernick, Robert H. ^{[27
]}

Lonardo, Fortunato ^{[28
]}

Mahoney, Maurice J. ^{[29
]}

Ojeda, Mayra Martinez ^{[30
]}

McDonald, Marie T. ^{[31
]}

McDougall, Carey ^{[32
]}

Mendelsohn, Nancy ^{[33
]}

Miller, David T. ^{[30
]}

Mori, Mari ^{[34
]}

Oostenbrink, Rianne ^{[35
]}

Perreault, Sebastien ^{[36
]}

Pierpont, Mary Ella ^{[37
]}

Piscopo, Carmelo ^{[38
]}

Pond, Dinel A. ^{[33
]}

Randolph, Linda M. ^{[39
]}

Rauen, Katherine A. ^{[12
]}

Rednam, Surya ^{[40
]}

Rutledge, S. Lane ^{[1
]}

Saletti, Veronica ^{[41
]}

机构：

[1] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA

[2] Univ N Carolina, Dept Pediat, Chapel Hill, NC 27515 USA

[3] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA

[4] Med Univ Vienna, Dept Pediat & Adolescent Med, Div Neonatol Pediat Intens Care & Neuropediat, Vienna, Austria

[5] Childrens Hosp Wisconsin, Milwaukee, WI 53201 USA

[6] Univ Colorado, Sch Med, Childrens Hosp, Dept Clin Genet & Metab, Aurora, CO USA

[7] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[8] Rady Childrens Hosp, Div Genet Dysmorphol, San Diego, CA USA

[9] Baylor Scott & White Hosp, Temple, TX USA

[10] Univ Vermont, Med Ctr, Clin Genet Program, Burlington, VT USA

[11] Childrens Hosp Westmead, Dept Clin Genet, Westmead, NSW, Australia

[12] UC Davis MIND Inst, Dept Pediat, Div Genom Med, Sacramento, CA USA

[13] KU Leuven Univ Leuven, Dept Human Genet, Leuven, Belgium

[14] IRCCS, Bambino Gesu Childrens, Med Genet Unit, Rome, Italy

[15] Carolinas Med Ctr, Charlotte, NC 28203 USA

[16] AOU Meyer, SOC Genet Med, Florence, Italy

[17] Univ N Carolina, Sch Med, Dept Neurol, Div Child Neurol, Chapel Hill, NC 27515 USA

[18] St Josephs Childrens Hosp, Neurofibromatosis Diagnost & Treatment Program, Paterson, NJ USA

[19] Childrens Hosp Philadelphia, Neurofibromatosis Program, Philadelphia, PA 19104 USA

[20] Hosp Univ Ramon & Cajal, Inst Hlth Res IRYCIS, Dept Genet, Madrid, Spain

[21] Ctr Biomed Res Network Rare Dis CIBERER, Valencia, Spain

[22] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

[23] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA

[24] Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA

[25] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[26] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[27] Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA

[28] G Rummo Hosp, Med Genet Unit, Benevento, Italy

[29] Yale Univ, Dept Genet, New Haven, CT USA

[30] Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA

[31] Duke Univ, Sch Med, Dept Pediat, Div Med Genet, Durham, NC USA

[32] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[33] Childrens Hosp Minnesota, Genom Med Program, Minneapolis, MN USA

[34] Brown Univ, Dept Pediat, Warren Alpert Med Sch, Providence, RI 02912 USA

[35] Erasmus MC Sophia, Dept Gen Pediat, Rotterdam, Netherlands

[36] CHU St Justine, Mother & Child Univ Hosp Ctr, Montreal, PQ, Canada

[37] Univ Minnesota, Dept Pediat & Ophthalmol, Minneapolis, MN USA

[38] AORN A Cardarelli, UOSC Med Genet, Naples, Italy

[39] Univ Southern Calif, Childrens Hosp Los Angeles, Keck Sch Med, Div Med Genet, Los Angeles, CA USA

[40] Baylor Coll Med, Dept Pediat, Sect Hematol Oncol, Houston, TX 77030 USA

[41] IRCCS Fdn, Carlo Besta Neurol Inst, Dev Neurol Unit, Milan, Italy

[42] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Div Med Genet, Little Rock, AR 72205 USA

[43] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[44] Univ Nebraska Med Ctr, Munroe Meyer Inst, Genet Med, Omaha, NE USA

[45] DCH Reg Med Ctr, Northport, AL USA

[46] Northport Med Ctr, Northport, AL USA

[47] Univ Iowa Hosp & Clin, Stead Family Dept Pediat, Iowa City, IA 52242 USA

[48] Boston Childrens Hosp, Dept Neurol, Boston, MA USA

[49] Indiana Univ Sch Med, Dept Neurol, Indianapolis, IN 46202 USA

[50] Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria

来源：

GENETICS IN MEDICINE | 2019年 / 21卷 / 03期

关键词：

D O I：

10.1038/s41436-018-0326-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：764 / 765

页数：2

共 3 条

[1] Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Koczkowska, Magdalena
Callens, Tom
Gomes, Alicia
Sharp, Angela
Chen, Yunjia
Hicks, Alesha D.
Aylsworth, Arthur S.
Azizi, Amedeo A.
Basel, Donald G.
Bellus, Gary
Bird, Lynne M.
Blazo, Maria A.
Burke, Leah W.
Cannon, Ashley
Collins, Felicity
DeFilippo, Colette
Denayer, Ellen
Digilio, Maria C.
Dills, Shelley K.
Dosa, Laura
Greenwood, Robert S.
Griffis, Cristin
Gupta, Punita
Hachen, Rachel K.
Hernandez-Chico, Concepcion
Janssens, Sandra
Jones, Kristi J.
Jordan, Justin T.
Kannu, Peter
Korf, Bruce R.
Lewis, Andrea M.
Listernick, Robert H.
Lonardo, Fortunato
Mahoney, Maurice J.
Ojeda, Mayra Martinez
McDonald, Marie T.
McDougall, Carey
Mendelsohn, Nancy
Miller, David T.
Mori, Mari
Oostenbrink, Rianne
Perreault, Sebastian
Pierpont, Mary Ella
Piscopo, Carmelo
Pond, Dinel A.
Randolph, Linda M.
Rauen, Katherine A.
Rednam, Surya
Rutledge, S. Lane
Saletti, Veronica
GENETICS IN MEDICINE, 2019, 21 (04) : 867 - 876
[2] An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT):: evidence of a clinically significant NF1 genotype-phenotype correlation
Upadhyaya, M.
Huson, S. M.
Davies, M.
Thomas, N.
Chuzhanova, N.
Giovannini, S.
Evans, D. G.
Howard, E.
Kerr, B.
Griffiths, S.
Consoli, C.
Side, L.
Adams, D.
Pierpont, M.
Hachen, R.
Barnicoat, A.
Li, H.
Wallace, P.
Van Biervliet, J. P.
Stevenson, D.
Viskochil, D.
Baralle, D.
Haan, E.
Riccardi, V.
Turnpenny, P.
Lazaro, C.
Messiaen, L.
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (01) : 140 - 151
[3] An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 deIAAT
Upadhyaya, M.
Huson, S. M.
Davies, M.
Giovannini, S.
Griffiths, S.
Consoli, C.
Side, L.
Adams, D.
Pierpoint, M.
Hachen, R.
Stevenson, D.
Viskochil, D.
Wallace, P.
Barnicoat, A.
Chuzhanova, N.
Baralle, D.
Lazaro, C.
Haan, E.
Turnpenny, P.
Messiaen, L.
JOURNAL OF MEDICAL GENETICS, 2006, 43 : S75 - S75

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