Table 4.
Sub-PHS patients with mutations
| Individual | Mutation | Findings and Symptoms | Additional Findings | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Mesoaxial Polydactyly |
Postaxial Polydactyly |
Preaxial Polydactyly |
Cutaneous Syndactyly |
Craniofacial Features |
Bifid Epiglottis |
MRI Findings |
|||
| PH1 | c.2149C>T, p.Q717X | HB | 2,3 toe FB | Deep set eyes, small nose, diastema, small ears | + | HH with multicystic extension | Cloaca (many surgeries), unilateral renal agenesis, decreased renal function, thrombocytopenia, SZ, severe MR | ||
| PH2 | c.2437C>T, p.Q813X | HB, FB | NA | HH | Small nails, PDA, ASD, tricuspid regurgitation, absent pituitary and adrenal glands, pulmonary hypertension, abnormal lung lobulation, imperforate anus, genital hypoplasia, deceased at 1 day | ||||
| PH3 | c.2466delG, p.M824X | oligodactyly HL; fusion of metacarpals | FL | HR; 2,3 toe FL; 2,3,4 FR | NA | HH | Small nails, deceased at 3 months | ||
| PH4 | c.2542delG, p.D848TfsX12 | HR | Macrocephaly, small teeth | + | HH | Visual problems, hearing problems, ectopic right kidney, GH deficiency, obesity, SZ, DD | |||
| PH5 | c.2621_2624del, p.R874PfsX15 | Bilateral | NA | HH | Small nails, pulmonary hypoplasia, absent pituitary gland, adrenal hypoplasia, thyroid hypoplasia, vaginal atresia, vesicovaginal fistula, hydrocolpos, bilateral renal hypoplasia, deceased antepartum at 41 weeks | ||||
| PH6 | c.3004delG, p.V1002X | oligodactyly HR | NA | HH | Osseous syndactyly of metacarpals and metatarsals, short stature, growth hormone deficient, laughing spells | ||||
| PH7 | c.3302dupA, p.N1101KfsX28 | HB | + | HH | Small nails, hypoplastic toes, pointed teeth, midline frenula, laryngeal cleft, GH deficient, genital hypoplasia, neurosensory hearing loss, gelastic SZ | ||||
| PH8-1 | c.3887_3894del, p.L1297SfsX4 | HB | FB | + | Enlarged cerebellar tonsils | Growth hormone deficient, 13:17 translocation | |||
| PH8-2 | c.3887_3894del, p.L1297SfsX4 | HB, FB | + | Normal | |||||
| PH8-3 | c.3887_3894del, p.L1297SfsX4 | HB | + | Thoracic scoliosis, nystagmus, DD | |||||
| PH8-4 | c.3887_3894del, p.L1297SfsX4 | HB, FB | Broad forehead | + | Sphenoid sinus | Extra bone in right foot, chronic sinus problems, 13:17 translocation | |||
HB, hands bilateral; HR, hand right; HL, hand left; FB, foot bilateral; FR, foot right; FL, foot left; HH, hypothalamic hamartoma; SZ, seizures; MR, mental retardation; PDA, patent ductus arteriosus; ASD, atrial septal defect; GH, growth hormone; DD, developmental delay; +, presence of finding. Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines (www.hgvs.org/mutnomen). The initiation codon is codon 1.