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. 2022 Dec 7;15(12):e248995. doi: 10.1136/bcr-2022-248995

Table 2.

Review of reported familial cases of TAND

Cohort Number of cases Type of pathogenic variant Variant information
Schneeweiss et al, 2022 (patients A and B) Familial=1
Confirmed mosaic=1		 Nonsense c558G>A; p.W1861X
Torti et al1 Familial=5
Confirmed mosaic=0		 N/A c.2224 C>T; p.Arg742Ter
c.2224 C>T; p.Arg742Ter
c.3803_3804delGA; p.Arg1268ThrfsTer9
c.3803_3804delGA; p.Arg1268ThrfsTer9
c.3803_3804delGA; p.Arg1268ThrfsTer9
Vetrini et al2 Familial=5
Confirmed mosaic=0		 Frameshift
Nonsense
Frameshift
Frameshift
Frameshift		 c.310_313dupCCAC; p.Gln106Profs*30
c.2260C>T; p.Gln754*
c.2685delG; p.Arg896Glyfs*9
c.5732delC; p.Pro1911Argfs*17
c.5732delC; p.Pro1911Argfs*17
Babbs et al5 Familial=4
Confirmed mosaic=0		 N/A Inversion break intron 1
Inversion break intron 1
c.4670C>T; p.P1557L
c.4670C>T; p.P1557L

N/A, not applicable.TAND, TCF20-associated neurodevelopmental disorder;