Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F. Palafox; Angela Wei; Kathryn Elliott; Dana H. Goodloe; S. Joy Dean; Catherine Gooch; Brianna K. Murray; Erin Swartz; Samantha A. Schrier Vergano; Meghan C. Towne; Kimberly Nugent; Elizabeth R. Roeder; Christina Kresge; Beth A. Pletcher; Katheryn Grand; John M. Graham; Ryan Gates; Natalia Gomez-Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J. Benke; Julie S. Cohen; Ali Fatemi; Weiyi Mu; Kristin W. Baranano; Jill A. Madden; Cynthia S. Gubbels; Timothy W. Yu; Pankaj B. Agrawal; Mary Kathryn Chambers; Chanika Phornphutkul; John A. Pugh; Kate A. Tauber; Svetlana Azova; Jessica R. Smith; Anne O’Donnell-Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N. Schweitzer; Valerie A. Arboleda

doi:10.1002/mgg3.1809

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto
, Jessica Kianmahd
, Meghna Singh
, Maria F. Palafox
, Angela Wei
, Kathryn Elliott
, Dana H. Goodloe
, S. Joy Dean
, Catherine Gooch
, Brianna K. Murray
, Erin Swartz
, Samantha A. Schrier Vergano
, Meghan C. Towne
, Kimberly Nugent
, Elizabeth R. Roeder
, Christina Kresge
, Beth A. Pletcher
, Katheryn Grand
, John M. Graham
, Ryan Gates

Natalia Gomez-Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell-Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

Pediatric Genetics Division

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

Original language	English
Article number	e1809
Journal	Molecular Genetics and Genomic Medicine
Volume	9
Issue number	10
DOIs	https://doi.org/10.1002/mgg3.1809
State	Published - Oct 2021

ASJC Scopus Subject Areas

Molecular Biology
Genetics
Genetics(clinical)

Keywords

CRISPR
Genitopatellar syndrome
KAT6B-related disorders
Say-Barber-Biesecker-Young-Simpson syndrome
phenotypic spectrum
variable expressivity, rare genetic diagnosis
Humans
Patella/abnormalities
Urogenital Abnormalities/diagnosis
Male
Genetic Loci
Scrotum/abnormalities
Genetic Counseling
Kidney/abnormalities
Facies
Craniofacial Abnormalities/diagnosis
Genetic Predisposition to Disease
Genetic Association Studies
Genotype
Blepharophimosis/diagnosis
Psychomotor Disorders/diagnosis
Histone Acetyltransferases/genetics
Phenotype
Heart Defects, Congenital/diagnosis
Alleles
Congenital Hypothyroidism/diagnosis
Intellectual Disability/diagnosis
Mutation
Abnormalities, Multiple/diagnosis
Cohort Studies
Joint Instability/diagnosis

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10.1002/mgg3.1809

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Yabumoto, M., Kianmahd, J., Singh, M., Palafox, M. F., Wei, A., Elliott, K., Goodloe, D. H., Dean, S. J., Gooch, C., Murray, B. K., Swartz, E., Schrier Vergano, S. A., Towne, M. C., Nugent, K., Roeder, E. R., Kresge, C., Pletcher, B. A., Grand, K., Graham, J. M., ... Arboleda, V. A. (2021). Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics and Genomic Medicine, 9(10), Article e1809. https://doi.org/10.1002/mgg3.1809

Yabumoto, M, Kianmahd, J, Singh, M, Palafox, MF, Wei, A, Elliott, K, Goodloe, DH, Dean, SJ, Gooch, C, Murray, BK, Swartz, E, Schrier Vergano, SA, Towne, MC, Nugent, K, Roeder, ER, Kresge, C, Pletcher, BA, Grand, K, Graham, JM, Gates, R, Gomez-Ospina, N, Ramanathan, S , Clark, RD, Glaser, K, Benke, PJ, Cohen, JS, Fatemi, A, Mu, W, Baranano, KW, Madden, JA, Gubbels, CS, Yu, TW, Agrawal, PB, Chambers, MK, Phornphutkul, C, Pugh, JA, Tauber, KA, Azova, S, Smith, JR, O’Donnell-Luria, A, Medsker, H, Srivastava, S, Krakow, D, Schweitzer, DN & Arboleda, VA 2021, 'Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms', Molecular Genetics and Genomic Medicine, vol. 9, no. 10, e1809. https://doi.org/10.1002/mgg3.1809

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title = "Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms",

keywords = "CRISPR, Genitopatellar syndrome, KAT6B-related disorders, Say-Barber-Biesecker-Young-Simpson syndrome, phenotypic spectrum, variable expressivity, rare genetic diagnosis, Humans, Patella/abnormalities, Urogenital Abnormalities/diagnosis, Male, Genetic Loci, Scrotum/abnormalities, Genetic Counseling, Kidney/abnormalities, Facies, Craniofacial Abnormalities/diagnosis, Genetic Predisposition to Disease, Genetic Association Studies, Genotype, Blepharophimosis/diagnosis, Psychomotor Disorders/diagnosis, Histone Acetyltransferases/genetics, Phenotype, Heart Defects, Congenital/diagnosis, Alleles, Congenital Hypothyroidism/diagnosis, Intellectual Disability/diagnosis, Mutation, Abnormalities, Multiple/diagnosis, Cohort Studies, Joint Instability/diagnosis",

author = "Megan Yabumoto and Jessica Kianmahd and Meghna Singh and Palafox, \{Maria F.\} and Angela Wei and Kathryn Elliott and Goodloe, \{Dana H.\} and Dean, \{S. Joy\} and Catherine Gooch and Murray, \{Brianna K.\} and Erin Swartz and \{Schrier Vergano\}, \{Samantha A.\} and Towne, \{Meghan C.\} and Kimberly Nugent and Roeder, \{Elizabeth R.\} and Christina Kresge and Pletcher, \{Beth A.\} and Katheryn Grand and Graham, \{John M.\} and Ryan Gates and Natalia Gomez-Ospina and Subhadra Ramanathan and Clark, \{Robin Dawn\} and Kimberly Glaser and Benke, \{Paul J.\} and Cohen, \{Julie S.\} and Ali Fatemi and Weiyi Mu and Baranano, \{Kristin W.\} and Madden, \{Jill A.\} and Gubbels, \{Cynthia S.\} and Yu, \{Timothy W.\} and Agrawal, \{Pankaj B.\} and Chambers, \{Mary Kathryn\} and Chanika Phornphutkul and Pugh, \{John A.\} and Tauber, \{Kate A.\} and Svetlana Azova and Smith, \{Jessica R.\} and Anne O{\textquoteright}Donnell-Luria and Hannah Medsker and Siddharth Srivastava and Deborah Krakow and Schweitzer, \{Daniela N.\} and Arboleda, \{Valerie A.\}",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors. Molecular Genetics \& Genomic Medicine published by Wiley Periodicals LLC",

year = "2021",

month = oct,

doi = "10.1002/mgg3.1809",

language = "English",

volume = "9",

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T1 - Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

AU - Yabumoto, Megan

AU - Kianmahd, Jessica

AU - Singh, Meghna

AU - Palafox, Maria F.

AU - Wei, Angela

AU - Elliott, Kathryn

AU - Goodloe, Dana H.

AU - Dean, S. Joy

AU - Gooch, Catherine

AU - Murray, Brianna K.

AU - Swartz, Erin

AU - Schrier Vergano, Samantha A.

AU - Towne, Meghan C.

AU - Nugent, Kimberly

AU - Roeder, Elizabeth R.

AU - Kresge, Christina

AU - Pletcher, Beth A.

AU - Grand, Katheryn

AU - Graham, John M.

AU - Gates, Ryan

AU - Gomez-Ospina, Natalia

AU - Ramanathan, Subhadra

AU - Clark, Robin Dawn

AU - Glaser, Kimberly

AU - Benke, Paul J.

AU - Cohen, Julie S.

AU - Fatemi, Ali

AU - Mu, Weiyi

AU - Baranano, Kristin W.

AU - Madden, Jill A.

AU - Gubbels, Cynthia S.

AU - Yu, Timothy W.

AU - Agrawal, Pankaj B.

AU - Chambers, Mary Kathryn

AU - Phornphutkul, Chanika

AU - Pugh, John A.

AU - Tauber, Kate A.

AU - Azova, Svetlana

AU - Smith, Jessica R.

AU - O’Donnell-Luria, Anne

AU - Medsker, Hannah

AU - Srivastava, Siddharth

AU - Krakow, Deborah

AU - Schweitzer, Daniela N.

AU - Arboleda, Valerie A.

PY - 2021/10

Y1 - 2021/10

KW - CRISPR

KW - Genitopatellar syndrome

KW - KAT6B-related disorders

KW - Say-Barber-Biesecker-Young-Simpson syndrome

KW - phenotypic spectrum

KW - variable expressivity, rare genetic diagnosis

KW - Humans

KW - Patella/abnormalities

KW - Urogenital Abnormalities/diagnosis

KW - Male

KW - Genetic Loci

KW - Scrotum/abnormalities

KW - Genetic Counseling

KW - Kidney/abnormalities

KW - Facies

KW - Craniofacial Abnormalities/diagnosis

KW - Genetic Predisposition to Disease

KW - Genetic Association Studies

KW - Genotype

KW - Blepharophimosis/diagnosis

KW - Psychomotor Disorders/diagnosis

KW - Histone Acetyltransferases/genetics

KW - Phenotype

KW - Heart Defects, Congenital/diagnosis

KW - Alleles

KW - Congenital Hypothyroidism/diagnosis

KW - Intellectual Disability/diagnosis

KW - Mutation

KW - Abnormalities, Multiple/diagnosis

KW - Cohort Studies

KW - Joint Instability/diagnosis

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UR - https://www.mendeley.com/catalogue/1e4e6cb6-31c4-3252-a76c-dedbe21fa3dd/

U2 - 10.1002/mgg3.1809

DO - 10.1002/mgg3.1809

M3 - Article

C2 - 34519438

AN - SCOPUS:85114792838

SN - 2324-9269

VL - 9

JO - Molecular Genetics and Genomic Medicine

JF - Molecular Genetics and Genomic Medicine

IS - 10

M1 - e1809

ER -

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

ASJC Scopus Subject Areas

Keywords

Access to Document

OpenUrl availability

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