Literature DB >> 28675391

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone.   

Abstract

This corrects the article DOI: 10.1038/tp.2017.27.

Entities:  

Year:  2017        PMID: 28675391      PMCID: PMC5538113          DOI: 10.1038/tp.2017.128

Source DB:  PubMed          Journal:  Transl Psychiatry        ISSN: 2158-3188            Impact factor:   6.222


Correction to: Translational Psychiatry (2017) 7, e1043; doi:10.1038/tp.2017.27; published online 21 February 2017 Several entries in Table 1 use protein change annotations that do not comply with Human Genome Variation Society nomenclature. The nomenclature corrections (obtained from https://mutalyzer.nl/) are listed below. Most of the changes are a result of one amino acid to the truncated protein complying with the consensus nomenclature. The revised version of the table provided here reflects the corrections.
Table 1

Deciduous tooth eruption is early in ADNP-mutated children

Panel 1 c.70_75del AGTGAC was changed to p.Ser24_Asp25del instead of del Ser24Asp25. c.190dupA was changed to p.Thr64Asnfs*35 instead of p.Thr64Asnfs*34. c.339delC was changed to p.Phe114Serfs*47 instead of p. Phe114Serfs*46. c.484C>T was changed to p.Gln162* instead of p.q162*. c.539_542delTTAG was changed to p.Val180Glyfs*17 instead of p.Val180Glyfs*16. Panel 2 c.1046_1047delTG was changed to p.Leu349Argfs*49 instead of p.Leu349Argfs*48. c.1106_1108delTACinsCTGT was changed to p.Leu369Serfs*30 instead of p.Leu369Serfs*29. c.1184_1190delAGTCTGC was changed to p.Gln395Leufs*11 instead of p.Gln395Leufs*10. c.1235delT was changed to p.Leu412Profs*10 instead of p. Pro410leufs*9. Panel 3 c.2130delAinsCA was changed to c.2129dupC. Also, a typographical error in protein annotation was corrected: Ser71Lysfs*24 should have been p.Ser711Lysfs*24. Column 3 (c.1235delT) was deleted entirely. It was a duplicate entry instead of the information for a child who was inadvertently omitted. In the revised table, the entry for the omitted child appears in the last column (see correction 19). The order of the children has been preserved, and the error did not alter the reported number of children who exhibited early tooth eruption and hence did not affect the statistical analysis. c.2153_2165delCTTACGAGCAAAT was changed to p.Thr718Argfs*6 instead of p.Thr718Glyfs*12. Panel 5 c.2206dupA was changed to p.Ser736Lysfs*2 instead of pSer736Lys*. c.2213C>A was changed to p.Ser738* instead of p.Ser738Ter. c.2310delT was changed to p.Leu771* instead of p. Phe770*1. c.2491_2494delTTAA was changed to p.Leu831Ilefs*82 instead of p.Leu831 llefs*81. Panel 6 c.2496_2499delTAAA was changed to p.Asn832Lysfs*81 instead of p.Asn832Lysfs*80. c.2499delA was changed to p.Val834Serfs*80 instead of p.Lys833Asnfs*80. The information for the omitted child noted in correction 11 has been added to the last column (c.2865_2868delTGAG). In column 6, the duplicate nucleotide sequence has been deleted.
  5 in total

1.  SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.

Authors:  Yanina Ivashko-Pachima; Maram Ganaiem; Inbar Ben-Horin-Hazak; Alexandra Lobyntseva; Naomi Bellaiche; Inbar Fischer; Gilad Levy; Shlomo Sragovich; Gidon Karmon; Eliezer Giladi; Shula Shazman; Boaz Barak; Illana Gozes
Journal:  Mol Psychiatry       Date:  2022-05-10       Impact factor: 15.992

2.  A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.

Authors:  Minh-Tuan Huynh; Elise Boudry-Labis; Alfred Massard; Caroline Thuillier; Bruno Delobel; Bénédicte Duban-Bedu; Catherine Vincent-Delorme
Journal:  Eur J Hum Genet       Date:  2018-06-13       Impact factor: 4.246

3.  Cellular and animal models of skin alterations in the autism-related ADNP syndrome.

Authors:  Pilar Mollinedo; Oxana Kapitansky; Domingo Gonzalez-Lamuño; Adi Zaslavsky; Pedro Real; Illana Gozes; Alberto Gandarillas; Jose L Fernandez-Luna
Journal:  Sci Rep       Date:  2019-01-24       Impact factor: 4.379

4.  The relation of severe malocclusion to patients' mental and behavioral disorders, growth, and speech problems.

Authors:  Anu Koskela; Anneli Neittaanmäki; Kaj Rönnberg; Aarno Palotie; Samuli Ripatti; Tuula Palotie
Journal:  Eur J Orthod       Date:  2021-04-03       Impact factor: 3.075

5.  Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.

Authors:  Maram Ganaiem; Gidon Karmon; Yanina Ivashko-Pachima; Illana Gozes
Journal:  Cells       Date:  2022-09-26       Impact factor: 7.666

  5 in total

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