Table 1 Clinical Summaries of the Chinese Wiedemann–Steiner Syndrome (WDSTS) Patients
Patient ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | |
|---|---|---|---|---|---|---|---|---|---|
Gender | F | M | M | F | M | F | F | F | |
Gestation (weeks) | 35 | Full term | Full term | 35 | Full term | Full term | Full term | Full term | |
Birth height (cm)/weight (kg) | 49/2.9 | Unknown/3.1 | 50/3.2 | 43/1.9 | 50/3.2 | Unknown/3.4 | Unknown/3.3 | Unknown/3.8 | |
Age at last examination | 3-year-3-month | 3-year | 6-year-7-month | 5-year | 5-year-7-month | 8-year-10-month | 25-year | 9-year-10-month | |
Current height (cm)/weight (kg) | 92 (−1.75 SD)/ 11.8 (−2.30 SD) | 85(−3.16 SD)/ 11.0(− 2.67 SD) | 106 (− 3.18 SD)/ 16.2 (− 2.51SD) | 96.5 (−5.32 SD)/ 13.5 (− 4.12 SD) | 105(−2.26 SD)/ 18.0 (− 1.09 SD) | 131 (−0.34 SD)/ 32.5 (+ 1.01 SD) | 158 (− 0.57 SD)/ 65 (+ 1.68 SD) | 107 (− 4.72 SD)/ 17.0(− 1.90 SD) | |
Craniofacial features | |||||||||
Microcephaly (HPO:0000252) | + | + | + | – | – | – | – | – | |
Macrocephaly (HPO:0000256) | – | – | – | – | – | – | + | – | |
Prominent forehead (HPO:0011220) | + | + | – | – | + | + | – | – | |
Hypertelorism (HPO:0000316) | + | + | + | + | + | + | – | + | |
Ptosis (HPO:0000508) | – | + | + | – | – | – | + | + | |
Epicanthus (HPO:0000286) | – | – | – | – | – | – | – | – | |
Down-turned palpebral fissures (HPO:0000494) | + | + | + | + | + | – | – | + | |
Wide nasal bridge (HPO:0000431) | + | + | – | + | + | + | – | + | |
Depressed nasal bridge (HPO:0005280) | + | + | – | + | – | + | – | + | |
Long philtrum (HPO:0000343) | – | + | + | – | + | + | – | – | |
Low set ears (HPO:0000368) | – | + | + | + | – | – | – | – | |
External ear deformity(HPO:0040111) | – | – | – | – | – | – | – | – | |
Thin upper lip (HPO:0000219) | + | + | + | – | + | – | – | – | |
Down-turned corners of the mouth (HPO:0000153) | + | + | + | + | + | – | – | + | |
Micrognathia (HPO:0000347) | – | – | + | + | + | + | – | – | |
Skeletal anomalies | |||||||||
Advanced bone age (HPO:0200001) | nd | nd | nd | – | + | + | nd | – | |
Delayed bone age (HPO:0003799) | nd | nd | nd | + | – | – | nd | + | |
Brachydactyly (HPO:0001156) | – | – | – | + | + | + | + | – | |
Syndactyly (HPO:0001159) | – | – | – | – | – | – | – | – | |
Clinodactyly (HPO:0030084) | – | – | – | – | + | + | + | – | |
Puffy hands and feet | – | – | – | + | – | – | + | + | |
Small hands and feet | – | – | – | + | – | – | + | + | |
Carpal epiphyseal growth retardation | nd | nd | nd | – | – | – | – | – | |
Scoliosis (HPO:0002650) | – | – | – | – | – | – | – | – | |
Sacral dimple (HPO:0000960) | – | – | – | – | – | – | – | + | |
Absent palmar proximal transverse creases (HPO:0010489) | – | – | – | – | – | – | – | – | |
Deep palmar crease (HPO:0006191) | – | – | – | – | – | – | – | – | |
Hairiness | |||||||||
Thick hair (HPO:0100874) | + | + | + | – | – | + | + | + | |
Thick eyebrows (HPO:0000574) | – | – | – | – | – | + | + | + | |
Synophrys (HPO:0000664) | – | – | – | – | – | – | + | – | |
Arched eyebrows (HPO:0002553) | – | + | – | – | + | – | + | – | |
Long eyelashes (HPO:0000527) | + | + | + | + | + | + | – | + | |
Low hair line (HPO:0000294) | + | + | + | + | + | – | + | + | |
Hypertrichosis, cubiti (HPO:0000998) | – | – | – | – | – | + | + | + | |
Hypertrichosis, back (HPO:0000998) | mild | mild | – | + | mild | mild | + | mild | |
Hypertrichosis, lower limbs (HPO:0000998) | – | – | – | – | – | – | – | + | |
Developmental and neurology | |||||||||
Walking delay (HPO:0031936) | – | + | – | – | + | – | – | – | |
Language delay (HPO:0000750) | + | + | + | – | + | – | + | + | |
Intellectual disability (HPO:0001249) | mild | + | + | nd | + | – | + | + | |
Aggressive behavior (HPO:0000718) | – | + | + | – | + | – | – | – | |
Hyperactivity (HPO:0007018) | – | – | – | – | + | – | – | + | |
Autism (HPO:0000717) | – | – | – | – | + | – | – | – | |
Organic problems | |||||||||
Strabismus (HPO:0000486) | – | – | – | – | – | – | – | – | |
Hyperopia (HPO:0008499) | – | – | + | – | – | – | – | – | |
High palate (HPO:0000218) | – | – | + | + | + | + | + | + | |
Cleft palate (HPO:0000175) | + | – | – | – | – | – | – | ||
Glossoptosis (HPO:0000162) | – | – | – | – | – | – | – | – | |
Feeding difficulties (HPO:0011968) | + | – | – | – | + | – | – | – | |
Cardiac anomaly | – | – | – | – | PDA | – | – | – | |
Dyslipidemia | – | – | – | – | – | – | – | – | |
Abnormality of the teeth (HPO:0000164) | – | – | + | – | + | – | – | + | |
GH deficiency (HPO:0000824) | ne | ne | + | + | ne | ne | ne | ne | |
KMT2A variant | p.Pro1281Leufs*75 | p.Gly3585Argfs*8 | p.Ser774Valfs*12 | p.Arg3906Cys | p.Gly1168Asp | p.Arg1081* | p.Ser774Valfs*12 | c.10900 + 2 T > C | |
This study | Sun et al.2017 (ref 6) | Chinese patients (N = 16; %) | |||||||
Patient ID | 9 | 10 | 11 | 12 | 13 | 14 | A.II-5 | B.II-1 | |
Gender | M | M | F | M | F | F | M | M | 8 M/8F |
Gestation (weeks) | Full term | Full term | 38+ 5 | Full term | 35+ 5 | 38+ 5 | nd | nd | |
Birth height (cm)/weight (kg) | Unknown | Unknown/2.6 | 51/2.9 | 50/2.9 | 46/2.5 | Unknown /2.3 | nd | nd | |
Age at last examination | 12-year | 6-year-9-month | 18-month | 4-year | 17-month | 20-month | 3-year | 6-year | |
Current height (cm)/weight (kg) | 118 (−3.16 SD)/ 19.5 (−3.76 SD) | 102.8 (−4.18 SD) /15.7 (− 3.06 SD) | 72 (− 3.28 SD) / 8.0 (−2.75 SD) | 100.5 (−0.89 SD)/ 15.4 (0.47 SD) | 66.0 (−6.25 SD)/ 6.7 (− 4.13 SD) | 66.0 (−5.90 SD) / 7.1 (− 4.16 SD) | <-2SD/nd | <-2SD/nd | |
Craniofacial features | |||||||||
Microcephaly (HPO:0000252) | + | + | – | – | – | + | + | + | 8/16; 50% |
Macrocephaly (HPO:0000256) | – | – | – | – | – | – | – | – | 1/16; 6% |
Prominent forehead (HPO:0011220) | + | – | + | – | + | – | – | – | 7/16; 44% |
Hypertelorism (HPO:0000316) | – | – | + | + | + | + | + | + | 13/16; 81% |
Ptosis (HPO:0000508) | + | – | + | + | – | + | + | + | 10/16; 63% |
Epicanthus (HPO:0000286) | – | + | – | – | – | – | – | + | 2/16; 13% |
Down-turned palpebral fissures (HPO:0000494) | + | – | + | + | + | – | + | + | 12/16; 75% |
Wide nasal bridge (HPO:0000431) | – | – | + | + | – | + | + | – | 10/16; 63% |
Depressed nasal bridge (HPO:0005280) | – | – | + | + | – | – | + | + | 9/16; 56% |
Long philtrum (HPO:0000343) | – | – | + | + | + | – | + | + | 9/16; 56% |
Low set ears (HPO:0000368) | – | + | – | + | – | – | + | – | 6/16; 38% |
External ear deformity (HPO:0040111) | – | + | – | + | – | – | 2/16; 13% | ||
Thin upper lip (HPO:0000219) | + | + | + | + | – | – | + | + | 8/16; 50% |
Down-turned corners of the mouth (HPO:0000153) | – | – | + | + | + | – | + | + | 13/16; 81% |
Micrognathia (HPO:0000347) | – | – | – | – | + | – | 7/16; 44% | ||
Skeletal anomalies | |||||||||
Advanced bone age (HPO:0200001) | – | – | – | – | nd | nd | – | – | 2/10; 20% |
Delayed bone age (HPO:0003799) | + | + | + | – | nd | nd | + | + | 7/10; 70% |
Brachydactyly (HPO:0001156) | – | + | – | + | – | + | – | + | 8/16; 50% |
Syndactyly (HPO:0001159) | 2–3 toe | 2–3 toe | – | – | – | 2–3 toe | – | – | 3/16; 19% |
Clinodactyly (HPO:0030084) | – | – | + | – | – | – | – | 4/16; 25% | |
Puffy hands and feet | – | + | – | + | + | – | + | + | 8/16; 50% |
Small hands and feet | – | + | + | + | – | – | + | + | 8/16; 50% |
Carpal epiphyseal growth retardation | – | + | – | – | – | – | 1/13; 8% | ||
Scoliosis (HPO:0002650) | – | + | – | – | – | – | – | – | 1/16; 6% |
Sacral dimple (HPO:0000960) | + | + | – | – | – | – | + | – | 4/16; 25% |
Absent palmar proximal transverse creases (HPO:0010489) | – | – | – | – | – | – | + | + | 2/16; 13% |
Deep palmar crease (HPO:0006191) | + | – | – | – | – | – | – | – | 1/16; 6% |
Hairiness | |||||||||
Thick hair (HPO:0100874) | + | + | + | + | + | + | + | + | 14/16; 88% |
Thick eyebrows (HPO:0000574) | – | + | + | – | – | + | – | – | 6/16; 38% |
Synophrys (HPO:0000664) | – | – | – | – | – | – | – | – | 1/16; 6% |
Arched eyebrows (HPO:0002553) | – | + | + | – | – | + | – | – | 6/16; 44% |
Long eyelashes (HPO:0000527) | + | + | + | + | – | + | + | + | 15/16; 94% |
Low hair line (HPO:0000294) | + | + | + | – | – | + | + | + | 13/16; 81% |
Hypertrichosis, cubiti (HPO:0000998) | + | + | mild | mild | – | – | – | – | 7/16; 44% |
Hypertrichosis, back (HPO:0000998) | + | + | – | mild | mild | – | + | – | 12/16; 75% |
Hypertrichosis, lower limbs (HPO:0000998) | + | + | – | + | – | + | + | + | 8/16; 50% |
Developmental and neurology | |||||||||
Walking delay (HPO:0031936) | + | + | + | + | + | + | + | + | 10/16; 63% |
Language delay (HPO:0000750) | + | + | too young | + | too young | + | + | + | 12/14; 86% |
Intellectual disability (HPO:0001249) | + | + | + | + | + | + | + | + | 14/15; 93% |
Aggressive behavior (HPO:0000718) | – | – | – | + | – | – | – | – | 4/16; 25% |
Hyperactivity (HPO:0007018) | – | – | – | – | – | – | – | – | 2/16; 13% |
Autism (HPO:0000717) | – | – | – | – | – | – | – | – | 1/16; 6% |
Organic problems | |||||||||
Strabismus (HPO:0000486) | + | + | – | – | too young | too young | – | + | 3/14; 21% |
Hyperopia (HPO:0008499) | – | – | – | – | too young | too young | – | – | 1/14; 7% |
High palate (HPO:0000218) | + | + | – | + | + | + | – | + | 12/16; 75% |
Cleft palate (HPO:0000175) | – | – | – | – | + | – | – | – | 1/16; 6% |
Glossoptosis (HPO:0000162) | – | – | – | – | + | – | – | – | 1/15; 7% |
Feeding difficulties (HPO:0011968) | – | – | – | – | + | – | + | + | 5/16; 31% |
Cardiac anomaly | – | BAV | – | – | – | – | PDA | – | 3/16; 19% |
Dyslipidemia | – | + | – | – | – | – | – | – | 1/16; 6% |
Abnormality of the teeth (HPO:0000164) | + | + | – | + | + | – | – | – | 7/16; 44% |
GH deficiency (HPO:0000824) | ne | + | ne | ne | ne | ne | nd | nd | 3/3; 100% |
KMT2A variant | p.Gln3613* | p.Tyr1957* | Pro1354Leufs*2 | p.Glu2018fs*7 | p.Arg301* | p.Trp838lfs*9 | p.Gln2803* | p.Gln819* | |