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Mutation update for the SATB2 gene
Author(s) -
Zarate Yuri A.,
Bosanko Katherine A.,
Caffrey Aisling R.,
Bernstein Jonathan A.,
Martin Donna M.,
Williams Marc S.,
BerryKravis Elizabeth M.,
Mark Paul R.,
Manning Melanie A.,
Bhambhani Vikas,
Vargas Marcelo,
Seeley Andrea H.,
EstradaVeras Juvianee I.,
Dooren Marieke F.,
Schwab Maria,
Vanderver Adeline,
Melis Daniela,
Alsadah Adnan,
Sadler Laurie,
Esch Hilde,
Callewaert Bert,
Oostra Ann,
Maclean Jane,
Dentici Maria Lisa,
Orlando Valeria,
Lipson Mark,
Sparagana Steven P.,
Maarup Timothy J.,
Alsters Suzanne IM,
Brautbar Ariel,
Kovitch Eliana,
Naidu Sakkubai,
Lees Melissa,
Smith Douglas M.,
Turner Lesley,
Raggio Víctor,
Spangenberg Lucía,
GarciaMiñaúr Sixto,
Roeder Elizabeth R.,
Littlejohn Rebecca O.,
Grange Dorothy,
Pfotenhauer Jean,
Jones Marilyn C.,
Balasubramanian Meena,
MartinezMonseny Antonio,
Blok Lot Snijders,
Gavrilova Ralitza,
Fish Jennifer L.
Publication year - 2019
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23771
Subject(s) - biology , missense mutation , genetics , phenotype , gene , expansive , genotype phenotype distinction , genotype , mutation , coding region , compressive strength , materials science , composite material
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.