Table 2

Recurrent PURA mutations and phenotype of affected individuals

MutationIndividual/ageReferencePhenotype
p.(Leu54Cysfs*24)Individual 24
17 years
This articleHypotonia, feeding difficulties requiring TF, GORD, apnoeas, hypersomnolence, hypothermia, severe ID, no speech, walking at age 4 years, short stature (−5 SD), epilepsy, mild PDA, mild strabismus, scoliosis, hip dysplasia, small hands and feet
Individual 31
16 years
This articleHypotonia, feeding difficulties requiring TF, hypersomnolence, severe ID, no speech, not able to walk, short stature (−2.75 SD), epilepsy, scoliosis, epilepsy, long fingers
p.(Lys97Glu)Individual 20
2.5 years
This articleHypotonia, mild feeding difficulties, hypersomnolence, no speech, not able to walk, mild constipation, pes planus
Subject #4
21 months
Lalani et al6Hypotonia, feeding difficulties, respiratory difficulties, seizures, ID, non-verbal, non-ambulatory, short stature (1%), strabismus, duplex left kidney, hydronephrosis
p.(Phe233del)Individual 4
14 years
This articleHypotonia, feeding difficulties, apnoeas, hypersomnolence, severe ID, no speech, able to walk, ASD, stereotypic hand movements, delayed myelination, swallow problems, severe hypermetropia, strabismus, low vitamin D, low ferritin, pes planus, abnormal peripheral nerve testing
Individual 5
19 years
This articleHypotonia, feeding difficulties, apnoeas, hypersomnolence, hypothermia, severe ID, no speech, not able to walk, stereotypic hand movements, epilepsy, nystagmus, delayed myelination, drooling, constipation, strabismus, CVI, scoliosis, hip dysplasia, low bone mineralisation, low vitamin D, anaemia, delayed puberty, small hands, pes planus
Individual 14
9 years
This articleHypotonia, severe ID, no speech, first steps age 7 years, epilepsy, delayed myelination, aberrant left subclavian artery, VSD, drooling, refraction abnormality, strabismus, low vitamin D, high cholesterol
Patient 4
6 months
Tanaka et al8Hypotonia, CVI, periventricular leukomalacia
Patient 4
6 years, 9 months
Hunt et al7Hypotonia, feeding difficulties requiring TF, apnoeas, hypothermia, severe ID, not able to walk, essentially non-verbal, exaggerated startle response, dystonia, dyskinesia, epilepsy, CVI, delayed myelination, excessive extra-axial fluid spaces, cerebral atrophy, hyperprolactinaemia, blunted cortisol stress response, low vitamin D
p.(Arg245Pro)Individual 1
19 years
This articleHypotonia, feeding difficulties, severe ID, no speech, not able to walk, autistic-like traits, chorea-like movements, Babinski response, delayed myelination, scoliosis, low vitamin D, hypogonadotropic hypogonadism
Individual 15
9 years
This articleHypotonia, feeding difficulties requiring TF, apnoeas, hypersomnolence, hypothermia, severe ID, no speech, first steps at age 4 years, epilepsy, drooling, constipation, pes planus
p.(Phe271del)Individual 28
11 months
This articleHypotonia, neonatal convulsions, moderate ID
Subject #1
6 months
Lalani et al6Hypotonia, feeding difficulties, respiratory difficulties, seizures, ID, pedal oedema
  • ASD, autism spectrum disorder; CVI, cortical visual impairment; GORD, gastro-oesophageal reflux disease; ID, intellectual disability; PDA, persistent ductus arteriosus; TF, tube feeding; VSD, ventricular septum defects.