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. Author manuscript; available in PMC: 2019 Jun 8.
Published in final edited form as: Am J Med Genet A. 2017 Sep 25;173(11):3003–3012. doi: 10.1002/ajmg.a.38492

Table II.

Features of patients with de novo mutations in HNRNPU. Includes patients in case series presented as well as previously reported cases. Of note, patient in Need et al., 2012 not included as patient has additional variant and complex phenotype not accounted for by HNRNPU mutation.

Patient ID (DECIPHER ID) 1 (258995) 2 (260453) 3 (265865) 4 (268390) 5 (277603) 6 (263453) 7 Total (of features reported)
Genotype c.1626_1627insA c.418G>A c.1117+1G>A c.23del c.1424_1425insTC c.960G>A c.1664del -
Protein change (predicted) p.(Lys543*) p.(Glu140Lys) splice donor variant p.(Val8Glufs*4) p.(Ile476Profs*7) p.(Trp320*) p.(Leu555Argfs*51) -
Inheritance De novo De novo De novo De novo De novo De novo De novo -
Additional genetic finding n/a Complete UPD (mat) chr 9 n/a n/a n/a n/a n/a -
Age last assessed 15yr 14yr 12yr 6yr 21yr 11yr 8.5yr -
Sex F M F F F F F -
Pregnancy NAD Congenital cardiac disease 20 week scan Maternal renal infection 16 weeks gestation NAD NAD NAD Ovarian stimulation, dizygotic twins -
Birth Emergency caesarean section NAD NAD NAD NAD NAD NAD -
Neonatal unit n/a 18 days n/a n/a n/a n/a Yes -
Gestation (weeks) 38 37 40 38 40 42 38 -
Feeding Difficulties No Yes No No No No No -
Additional
cranio-facial features
Synophrys, deepset eyes, long eyelashes, slightly coarse Pointed chin Low anterior hairline, synophrys, strabismus, short upturned nose, coarse Epicanthic folds, low set posteriorly rotated ears, upturned nose, smooth philtrum Hypertelorism Thick hair, prognathism n/a -
Other features Puffy dry skin over hands and feet, wide based gait Transposition of the great vessels, tricuspid atresia, VSD. Left single palmar crease Spinal lordosis Bilateral 2–3 toe cutaneous syndactyly, hypermobility. Brachydactyly, tapering fingers Broad thumbs and great toes, truncal obesity n/a -
Prominent eyebrows No Yes Yes No Yes Yes No 4/7 (57%)
Elongated PF No Yes No Yes Yes Yes No 4/7 (57%)
Prominent nasal bridge No Yes No No Yes Yes No 3/7 (43%)
Overhanging columella No Yes No Yes Yes Yes No 4/7 (57%)
Thin upper lip Yes Yes No Yes Yes Yes Yes 6/7 (86%)
Patient ID (DECIPHER ID) 1 (258995) 2 (260453) 3 (265865) 4 (268390) 5 (277603) 6 (263453) 7 Total (of features reported)
ID Moderate Moderate Moderate Severe Severe Severe Moderate 7/7 (100%)
Seizures Yes None Yes Single seizure only Yes Yes Yes 5/7 (71%)
Age onset of seizures 5yr n/a 1yrr 5yr <1yr 8 months 18 months n/a
Febrile seizures Yes No Yes No Yes No Yes 4/7 (57%)
EE No No No No No No No 0/7 (0%)
Delayed development Yes Yes Yes Yes Yes Yes Yes 7/7 (100%)
Sat independently 9 months 10 months 18 months 2–2.5yr 15 months 15 months 18 months n/a
Walked independently 2–2.5yr 2–2.5yr 4–5yr 5yr 22 months 39 months 6.5yr n/a
First words Over 5yr 2–2.5yr 18 months 5yr 2–2.5yr not achieved aged 11 yr 3yr n/a
Behaviour n/a Angers easily, Tourette syndrome Autism traits Very sociable Aggression with violent episodes Very sociable n/a n/a
Hand flapping Yes No Yes Yes Yes Yes No 5/7 (71%)
Special educational needs Yes Yes Yes Yes Yes Yes Mainstream school with additional support 6/7 (86%)
Cranial MRI abnormal* No Yes* No No No n/a Yes* 2/7 (29%)

Abbreviations: EE – epileptic encephalopathy. ID – intellectual disability. n/a- not applicable. NAD- no abnormalities detected. n/r- not reported. PF – palpebral fissures. UPD- uniparental disomy. VSD – ventricular septal defect.

*

MRI abnormalities: Patient 2 - Small periventricular areas with high T2 signal; Patient 7 - Non-progressive T2 and FLAIR hyperintensities in white matter bilaterally.