Table 1 Summary of clinical features of the affected proband (11) identified in the present study and those previously reported probands (1–10)
Proband
FeaturesHPO1234567891011
SexMaleMaleMaleMaleMaleMaleMaleMaleMaleMaleMale
Age (years)1513562211UNKUNKUNKUNK4
TAF1 Variant (hg19)p.Ile1337Thrp.Ile1337Thrp.Cys807Argp.Arg1246Trpp.Asn1517Hisp.Arg1431Hisp.Met21Leup.Glu1428Prop.Asn493Aspp.Arg1190Cysp.Ser1600Gly
Inheritance patternMaternalMaternalDe novoDe novoDe novoDe novoMaternalMaternalMaternalMaternalMaternal
Delayed gross motor developmentHP:002194+++++++UNKUNKUNKUNK+
Delayed speech and language developmentHP:0000750+++++++UNKUNKUNKUNK+
Intellectual disabilityHP:0001249+++++++++++
Prominent supraorbital ridgesHP:0000336++-++-UNKUNKUNKUNK+
Prominent foreheadHP:0011220+++--+UNKUNKUNKUNK+
Long philtrumHP:0000343++-+-+UNKUNKUNKUNK+
Thickened helicesHP:0009748++--++UNKUNKUNKUNK+
MacrotiaHP:0000400++++++UNKUNKUNKUNK+
Broad upturned noseHP:0000463++++-+UNKUNKUNKUNK+
Bulbous nasal tipHP:0000414++++-+UNKUNK+++
MyopiaHP:0000545--+++-UNKUNKUNKUNK+
Hypoplasia of the cerebellar vermisHP:0001320++++---UNKUNKUNKUNK+
Hypoplasia of the corpus callosumHP:0002079+++UNK+UNKUNKUNKUNKUNK+
HypotoniaHP:0001290+++++-UNKUNKUNKUNK+
HyporeflexiaHP:0001315++++++UNKUNKUNKUNK+
Gait abnormalitiesHP:0001288+++-+-UNKUNKUNKUNK+
Balance problemsHP:0002141++-++-UNKUNKUNKUNK+
Postural instabilityHP:0001251++--+-UNKUNKUNKUNK+
BradykinesiaHP:0002067----+-UNKUNKUNKUNK+
Short digitsHP:0011927--+--+UNKUNKUNKUNK+
Autistic behaviorsHP:0000729+++-++UNKUNKUNKUNK-
Recurrent hand flappingHP:0100023UNKUNKUNKUNKUNKUNKUNKUNKUNKUNK+
  • ‘+’ indicates mild or simple presence of the phenotype; ‘++’ indicates a more pronounced presence of the phenotype; ‘–’ indicates an absent feature. Abbreviation: UNK, unknown.

  • TAF1 variants in probands (1–6) were previously reported by O’Rawe et al. [4]. TAF1 variants in proband 7 and 8 were reported by Niranjan et al. [15]. The TAF1 variants’ probands 9 and 10 were reported by Hu et al. [16]. The TAF1 variant in proband 11 was reported by the present study.