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. 2018 Jul 16;2(3):NS20180141. doi: 10.1042/NS20180141

Table 1. Summary of clinical features of the affected proband (11) identified in the present study and those previously reported probands (1–10).

Proband
Features HPO 1 2 3 4 5 6 7 8 9 10 11
Sex Male Male Male Male Male Male Male Male Male Male Male
Age (years) 15 13 5 6 22 11 UNK UNK UNK UNK 4
TAF1 Variant (hg19) p.Ile1337Thr p.Ile1337Thr p.Cys807Arg p.Arg1246Trp p.Asn1517His p.Arg1431His p.Met21Leu p.Glu1428Pro p.Asn493Asp p.Arg1190Cys p.Ser1600Gly
Inheritance pattern Maternal Maternal De novo De novo De novo De novo Maternal Maternal Maternal Maternal Maternal
Delayed gross motor development HP:002194 + + + ++ + + UNK UNK UNK UNK +
Delayed speech and language development HP:0000750 + + + ++ + + UNK UNK UNK UNK +
Intellectual disability HP:0001249 + + + + + + + + + + +
Prominent supraorbital ridges HP:0000336 + + - + + - UNK UNK UNK UNK +
Prominent forehead HP:0011220 + + + - - + UNK UNK UNK UNK +
Long philtrum HP:0000343 + + - + - + UNK UNK UNK UNK +
Thickened helices HP:0009748 + + - - + + UNK UNK UNK UNK +
Macrotia HP:0000400 + + + + + + UNK UNK UNK UNK +
Broad upturned nose HP:0000463 + + + + - + UNK UNK UNK UNK +
Bulbous nasal tip HP:0000414 + + + + - + UNK UNK + + +
Myopia HP:0000545 - - + + + - UNK UNK UNK UNK +
Hypoplasia of the cerebellar vermis HP:0001320 + + ++ - - - UNK UNK UNK UNK +
Hypoplasia of the corpus callosum HP:0002079 + + + UNK + UNK UNK UNK UNK UNK +
Hypotonia HP:0001290 + + + + + - UNK UNK UNK UNK +
Hyporeflexia HP:0001315 + + + + + + UNK UNK UNK UNK +
Gait abnormalities HP:0001288 + + + - + - UNK UNK UNK UNK +
Balance problems HP:0002141 + + - + + - UNK UNK UNK UNK +
Postural instability HP:0001251 + + - - + - UNK UNK UNK UNK +
Bradykinesia HP:0002067 - - - - + - UNK UNK UNK UNK +
Short digits HP:0011927 - - + - - + UNK UNK UNK UNK +
Autistic behaviors HP:0000729 + + + - + + UNK UNK UNK UNK -
Recurrent hand flapping HP:0100023 UNK UNK UNK UNK UNK UNK UNK UNK UNK UNK +

‘+’ 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.