Mutation update for the SATB2 gene

Yuri A. Zarate; Katherine A. Bosanko; Aisling R. Caffrey; Jonathan A. Bernstein; Donna M. Martin; Marc S. Williams; Elizabeth M. Berry-Kravis; Paul R. Mark; Melanie A. Manning; Vikas Bhambhani; Marcelo Vargas; Andrea H. Seeley; Juvianee I. Estrada-Veras; Marieke F. van Dooren; Maria Schwab; Adeline Vanderver; Daniela Melis; Adnan Alsadah; Laurie Sadler; Hilde Van Esch; Bert Callewaert; Ann Oostra; Jane Maclean; Maria Lisa Dentici; Valeria Orlando; Mark Lipson; Steven P. Sparagana; Timothy J. Maarup; Suzanne I.M. Alsters; Ariel Brautbar; Eliana Kovitch; Sakkubai Naidu; Melissa Lees; Douglas M. Smith; Lesley Turner; Víctor Raggio; Lucía Spangenberg; Sixto Garcia-Miñaúr; Elizabeth R. Roeder; Rebecca O. Littlejohn; Dorothy Grange; Jean Pfotenhauer; Marilyn C. Jones; Meena Balasubramanian; Antonio Martinez-Monseny; Lot Snijders Blok; Ralitza Gavrilova; Jennifer L. Fish

doi:10.1002/humu.23771

Mutation update for the SATB2 gene

Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth M. Berry-Kravis, Paul R. Mark, Melanie A. Manning, Vikas Bhambhani, Marcelo Vargas, Andrea H. Seeley, Juvianee I. Estrada-Veras, Marieke F. van Dooren, Maria Schwab, Adeline Vanderver, Daniela Melis, Adnan Alsadah, Laurie Sadler, Hilde Van EschBert Callewaert, Ann Oostra, Jane Maclean, Maria Lisa Dentici, Valeria Orlando, Mark Lipson, Steven P. Sparagana, Timothy J. Maarup, Suzanne I.M. Alsters, Ariel Brautbar, Eliana Kovitch, Sakkubai Naidu, Melissa Lees, Douglas M. Smith, Lesley Turner, Víctor Raggio, Lucía Spangenberg, Sixto Garcia-Miñaúr, Elizabeth R. Roeder, Rebecca O. Littlejohn, Dorothy Grange, Jean Pfotenhauer, Marilyn C. Jones, Meena Balasubramanian, Antonio Martinez-Monseny, Lot Snijders Blok, Ralitza Gavrilova, Jennifer L. Fish

School of Medicine

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

12 Scopus citations

Abstract

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.

Original language	English (US)
Pages (from-to)	1013-1029
Number of pages	17
Journal	Human mutation
Volume	40
Issue number	8
DOIs	https://doi.org/10.1002/humu.23771
State	Published - 2019

Keywords

SATB2
SATB2-associated syndrome
genotype-phenotype correlation
pathogenic variants
whole exome sequencing

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L., ... Fish, J. L. (2019). Mutation update for the SATB2 gene. Human mutation, 40(8), 1013-1029. https://doi.org/10.1002/humu.23771

Zarate, YA, Bosanko, KA, Caffrey, AR, Bernstein, JA, Martin, DM, Williams, MS, Berry-Kravis, EM, Mark, PR, Manning, MA, Bhambhani, V, Vargas, M, Seeley, AH, Estrada-Veras, JI, van Dooren, MF, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, ML, Orlando, V, Lipson, M, Sparagana, SP, Maarup, TJ, Alsters, SIM, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, DM, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, ER, Littlejohn, RO, Grange, D, Pfotenhauer, J, Jones, MC, Balasubramanian, M, Martinez-Monseny, A, Blok, LS, Gavrilova, R & Fish, JL 2019, 'Mutation update for the SATB2 gene', Human mutation, vol. 40, no. 8, pp. 1013-1029. https://doi.org/10.1002/humu.23771

@article{c29b9bc718204f37b87ad888fb6f062b,

title = "Mutation update for the SATB2 gene",

abstract = "SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.",

keywords = "SATB2, SATB2-associated syndrome, genotype-phenotype correlation, pathogenic variants, whole exome sequencing",

author = "Zarate, {Yuri A.} and Bosanko, {Katherine A.} and Caffrey, {Aisling R.} and Bernstein, {Jonathan A.} and Martin, {Donna M.} and Williams, {Marc S.} and Berry-Kravis, {Elizabeth M.} and Mark, {Paul R.} and Manning, {Melanie A.} and Vikas Bhambhani and Marcelo Vargas and Seeley, {Andrea H.} and Estrada-Veras, {Juvianee I.} and {van Dooren}, {Marieke F.} and Maria Schwab and Adeline Vanderver and Daniela Melis and Adnan Alsadah and Laurie Sadler and {Van Esch}, Hilde and Bert Callewaert and Ann Oostra and Jane Maclean and Dentici, {Maria Lisa} and Valeria Orlando and Mark Lipson and Sparagana, {Steven P.} and Maarup, {Timothy J.} and Alsters, {Suzanne I.M.} and Ariel Brautbar and Eliana Kovitch and Sakkubai Naidu and Melissa Lees and Smith, {Douglas M.} and Lesley Turner and V{\'i}ctor Raggio and Luc{\'i}a Spangenberg and Sixto Garcia-Mi{\~n}a{\'u}r and Roeder, {Elizabeth R.} and Littlejohn, {Rebecca O.} and Dorothy Grange and Jean Pfotenhauer and Jones, {Marilyn C.} and Meena Balasubramanian and Antonio Martinez-Monseny and Blok, {Lot Snijders} and Ralitza Gavrilova and Fish, {Jennifer L.}",

note = "Funding Information: The authors are grateful to all participating families. B.C is a senior clinical investigator of the Research Foundation-Flanders. Publisher Copyright: {\textcopyright} 2019 Wiley Periodicals, Inc.",

year = "2019",

doi = "10.1002/humu.23771",

language = "English (US)",

volume = "40",

pages = "1013--1029",

journal = "Human mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "8",

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T1 - Mutation update for the SATB2 gene

AU - Zarate, Yuri A.

AU - Bosanko, Katherine A.

AU - Caffrey, Aisling R.

AU - Bernstein, Jonathan A.

AU - Martin, Donna M.

AU - Williams, Marc S.

AU - Berry-Kravis, Elizabeth M.

AU - Mark, Paul R.

AU - Manning, Melanie A.

AU - Bhambhani, Vikas

AU - Vargas, Marcelo

AU - Seeley, Andrea H.

AU - Estrada-Veras, Juvianee I.

AU - van Dooren, Marieke F.

AU - Schwab, Maria

AU - Vanderver, Adeline

AU - Melis, Daniela

AU - Alsadah, Adnan

AU - Sadler, Laurie

AU - Van Esch, Hilde

AU - Callewaert, Bert

AU - Oostra, Ann

AU - Maclean, Jane

AU - Dentici, Maria Lisa

AU - Orlando, Valeria

AU - Lipson, Mark

AU - Sparagana, Steven P.

AU - Maarup, Timothy J.

AU - Alsters, Suzanne I.M.

AU - Brautbar, Ariel

AU - Kovitch, Eliana

AU - Naidu, Sakkubai

AU - Lees, Melissa

AU - Smith, Douglas M.

AU - Turner, Lesley

AU - Raggio, Víctor

AU - Spangenberg, Lucía

AU - Garcia-Miñaúr, Sixto

AU - Roeder, Elizabeth R.

AU - Littlejohn, Rebecca O.

AU - Grange, Dorothy

AU - Pfotenhauer, Jean

AU - Jones, Marilyn C.

AU - Balasubramanian, Meena

AU - Martinez-Monseny, Antonio

AU - Blok, Lot Snijders

AU - Gavrilova, Ralitza

AU - Fish, Jennifer L.

N1 - Funding Information: The authors are grateful to all participating families. B.C is a senior clinical investigator of the Research Foundation-Flanders. Publisher Copyright: © 2019 Wiley Periodicals, Inc.

PY - 2019

Y1 - 2019

N2 - SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.

AB - SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.

KW - SATB2

KW - SATB2-associated syndrome

KW - genotype-phenotype correlation

KW - pathogenic variants

KW - whole exome sequencing

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U2 - 10.1002/humu.23771

DO - 10.1002/humu.23771

M3 - Article

C2 - 31021519

AN - SCOPUS:85069917016

SN - 1059-7794

VL - 40

SP - 1013

EP - 1029

JO - Human mutation

JF - Human mutation

IS - 8

ER -

Mutation update for the SATB2 gene

Abstract

Keywords

ASJC Scopus subject areas

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