Table 2.
Clinical data review of Chinese progeria patients.
| NO. | Form | Gender | Age at onset (symptom) |
Genotype | Phenotype | Ref. |
|---|---|---|---|---|---|---|
| P1 | MADA | Female | 10m (mottled hyperpigmentation) |
LMNA(hom) c.1579C>T (p. R527C) |
mandibular hypoplasia, progeroid face, alopecia, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities, swallowing difficulty, constipation | (26) |
| P2 | MADA | Female | 12m (mottled hyperpigmentation) |
LMNA(hom) c.1579C>T (p. R527C) |
mandibular hypoplasia, progeroid face, alopecia,short stature, skin abnormalities, A type lipodystrophy, skeletal abnormalities, swallowing difficulty, myogenic injury | (26) |
| P3 | MADA | Male | 8m (hypermyotonia) |
LMNA(hom) c.1579C>T (p. R527C) |
sparse hair, short stature, skin abnormalities, A type lipodystrophy, skeletal abnormalities, myogenic injury, hypertonia | (26) |
| P4 | MADA | Male | 1y (mottled hyperpigmentation) |
LMNA(hom) c.1579C>T (p. R527C) |
mandibular hypoplasia, progeroid face, sparse hair, skin abnormalities, B type lipodystrophy, skeletal abnormalities, bilateral internal carotid artery tortuous rotation | (27) |
| P5 | MADA | Female | 4m (Alopecia) |
LMNA
c.1579C>T (p.R527C), c.1583C>T (p. T528M) |
mandibular hypoplasia, progeroid face, alopecia, skin abnormalities, A type lipodystrophy, skeletal abnormalities | (28) |
| P6 | MADA | Male | 6m (Alopecia) |
LMNA
c.1579C>T (p.R527C), c.1583C>T (p. T528M) |
mandibular hypoplasia, progeroid face, alopecia, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities | (28) |
| P7 | MADA | Male | At birth (mottled hyperpigmentation) |
LMNA
c.1579C>T (p.R527C), c.1580G>A (p.R527H) |
mandibular hypoplasia, progeroid face, sparse hair, skin abnormalities, lipodystrophy, skeletal abnormalities | (29) |
| P8 | MADA | Female | 1y (poor growth) |
LMNA
(hom) c.1580G>A (p.R527H) |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities, growth hormone deficiency, mild muscle hypertonia | (30) |
| P9 | MADA | Male | NA |
LMNA
(hom) c.1580G>A (p.R527H) |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, B type lipodystrophy | (30) |
| P10 | HGPS | Male | 1m (Scleroderma skin) |
LMNA
(hem) c.1824C > T (p.G608G) |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, lipodystrophy, skeletal abnormalities, cerebral infarction(4y) |
(31) |
| P11 | HGPS | Male | 20d(Sclerodermic skin) |
LMNA
(hem) c.1824C> T (p.G608G) |
mandibular hypoplasia, progeroid face, alopecia, skin abnormalities, lipodystrophy, skeletal abnormalities, cerebral infarction(8y6m), bilateral hip dysplasia | (31) |
| P12 | HGPS | Male | 1m(Sclerodermic skin) |
LMNA
(hem) c.1824C> T (p.G608G) |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, lipodystrophy, skeletal abnormalities | (32) |
| P13 | AHGPS | Male | 2m (Alopecia) |
LMNA
(hom) c.1579C>T (p. R527C) |
mandibular hypoplasia, progeroid face, alopecia, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities, myocardial ischaemia |
(33) |
| P14 | AHGPS | Female | 4m (Alopecia) |
LMNA
(hom) c.1579C>T (p. R527C) |
Alopecia, short stature, skin abnormalities, lipodystrophy, skeletal abnormalities |
(33) |
| P15 | AHGPS | Female | 5m (Thickened skin of joints) |
LMNA(hom) c.1579C>T (p. R527C) |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities, left ventricular hypertrophy, mild regurgitation of the tricuspid valve and pulmonary valve |
(34) |
| P16 | AHGPS | Male | 6m (Alopecia) |
LMNA(hom) c.1579C>T (p. R527C) |
mandibular hypoplasia, progeroid face, alopecia, skin abnormalities | (34) |
| P17 | MADB | Female | 2y (poor growth) |
ZMPSTE24
c.743C>T (p.P248L), loss1(EXON:1-10)(all) |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities, occipital ossification defect, hyperuricemia, deformities of the external auricle |
(35) |
| P18 | MDPL | Female | 3y (Poor growth) |
POLD1
(hem) c.1812_1814del (p.S605del) |
mandibular hypoplasia, progeroid face, short stature, B type lipodystrophy, sensorineural hearing loss(10y),delayed menstrual periods | (36) |
| P19 | MDPL | Female | 7y (Poor growth) |
POLD1
(hem) c.1812_1814del (p.S605del) |
mandibular hypoplasia, progeroid face, skin abnormalities, B type lipodystrophy, minimal breast development, fatty liver, conjunctival telangiectasia, sensorineural hearing loss(25y) | (37) |
| P20 | MDPL | Female | 3y (Poor growth) |
POLD1
(hem) c.1812_1814del (p.S605del) |
mandibular hypoplasia, progeroid face, short stature, A type lipodystrophy, insulin resistance, fatty liver, sensorineural hearing loss(14y7m) | (38) |
| P21 | MDPL | Female | 4y (Poor growth) |
POLD1
(hem) c.3185A>G p.(Q 1062R) |
mandibular hypoplasia, progeroid face, A type lipodystrophy, sensorineural hearing loss(6y) | (39) |
| P22 | MDPL | Male | NA, diabetes presenting at 21y |
POLD1
(hem) c.3199G>A (p.E1067K) |
mandibular hypoplasia, progeroid face, short stature, skin abnormalities, B type lipodystrophy, diabetes mellitus, hyperlipemia, carotid thickening with plaques, fatty liver, germinal aplasia | (40) |
| P23 | MADaM | Female | 5m (Poor growth) |
MTX2
(hom) c.378 + 1G > A |
mandibular hypoplasia, progeroid face, sparse hair, short stature, skin abnormalities, B type lipodystrophy, skeletal abnormalities, elevated transaminases, renal involvement, hypertension, hyperlipemia, hypogammaglobulinemia | This study |