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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)1013-1029
Number of pages17
JournalHuman mutation
Volume40
Issue number8
DOIs
StatePublished - Jan 1 2019

Fingerprint

Nucleotides
Mutation
Nonsense Codon
Genetic Association Studies
Genes
Animal Models
Neurodevelopmental Disorders

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., ... Fish, J. L. (2019). Mutation update for the SATB2 gene. Human mutation, 40(8), 1013-1029. https://doi.org/10.1002/humu.23771

Mutation update for the SATB2 gene. / Zarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee I.; van Dooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I.M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Víctor; Spangenberg, Lucía; Garcia-Miñaúr, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.

In: Human mutation, Vol. 40, No. 8, 01.01.2019, p. 1013-1029.

Research output: Contribution to journalArticle

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
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS et al. Mutation update for the SATB2 gene. Human mutation. 2019 Jan 1;40(8):1013-1029. https://doi.org/10.1002/humu.23771
Zarate, Yuri A. ; Bosanko, Katherine A. ; Caffrey, Aisling R. ; Bernstein, Jonathan A. ; Martin, Donna M. ; Williams, Marc S. ; Berry-Kravis, Elizabeth M. ; Mark, Paul R. ; Manning, Melanie A. ; Bhambhani, Vikas ; Vargas, Marcelo ; Seeley, Andrea H. ; Estrada-Veras, Juvianee I. ; van Dooren, Marieke F. ; Schwab, Maria ; Vanderver, Adeline ; Melis, Daniela ; Alsadah, Adnan ; Sadler, Laurie ; Van Esch, Hilde ; Callewaert, Bert ; Oostra, Ann ; Maclean, Jane ; Dentici, Maria Lisa ; Orlando, Valeria ; Lipson, Mark ; Sparagana, Steven P. ; Maarup, Timothy J. ; Alsters, Suzanne I.M. ; Brautbar, Ariel ; Kovitch, Eliana ; Naidu, Sakkubai ; Lees, Melissa ; Smith, Douglas M. ; Turner, Lesley ; Raggio, Víctor ; Spangenberg, Lucía ; Garcia-Miñaúr, Sixto ; Roeder, Elizabeth R. ; Littlejohn, Rebecca O. ; Grange, Dorothy ; Pfotenhauer, Jean ; Jones, Marilyn C. ; Balasubramanian, Meena ; Martinez-Monseny, Antonio ; Blok, Lot Snijders ; Gavrilova, Ralitza ; Fish, Jennifer L. / Mutation update for the SATB2 gene. In: Human mutation. 2019 ; Vol. 40, No. 8. pp. 1013-1029.
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AU - Caffrey, Aisling R.

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AU - Martin, Donna M.

AU - Williams, Marc S.

AU - Berry-Kravis, Elizabeth M.

AU - Mark, Paul R.

AU - Manning, Melanie A.

AU - Bhambhani, Vikas

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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

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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

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