Table 1 Summary of the clinical and biological features of the 14 patients
Pedigree | UPN | Sex/age/vital status | G6PC3 genotype | Age at diagnostic | Median ANC/AMC | Others hematological abnormalities | Therapy | Severe infections | Cardiac abnormalities | Urogenital abnormalities | Cutaneous abnormalities | Digestive tract | Other findings | Neurodev. difficulties |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A | 5194 | F/36/L | c.[249G > A];[249G > A] p.[W83*];[W83*] | New born | ANC: 0.7 | Mild Thrombocytopenia/Mild anemia prior leukemia/AML at age of 14 y | HSCT | Yes | Aortic insufficiency | Grade III RVU | Prominent veins, cutis laxa | Steatorrhea | Heart failure | Yes |
AMC: 0.28 | urethral duplication | Frontal bossing, thick lips, prognathism Respiratory failure Hypothyroidism | ||||||||||||
5193 | M/17/D | New Born | ANC 0.383 | G-CSF | Yes Repeated pneumonitis with bronchiectasis and lethal respiratory insufficiency | ASD/surgery | Bilateral cryptorchidism | Prominent veins, cutis laxa | Steatorrhea | Frontal bossing, thick lips, prognathism | Yes | |||
AMC: 1.44 | Hypospadias | |||||||||||||
5192 | F/29/L | New Born | ANC 0.411 | Mild Anemia Mild Thrombocytopenia | G-CSF | Yes | ASD/surgery | Bilateral grade I RVU | Prominent veins, cutis laxa | Steatorrhea | Respiratory failure | Yes | ||
AMC 1.11 | thick lips, prognathism | |||||||||||||
5131 | M/30/D | New Born | ANC: 1.368 AMC 0.55 | Mild Anemia | No | No | PDA Overriding aorta | Grade III RVU right side Cryptorchidism | Prominent veins, cutis laxa | IBD Steatorrhea | Thick lips, prognathism Pulmonary arterial hypertension Polyarthritis | Yes | ||
Death/sudden death | ||||||||||||||
5130 | M/24/L | New born | ANC 0.314 | Mild Anemia | G-CSF | Yes | WPW Sd | Cryptorchidism | Prominent veins,cutis laxa | Steatorrhea | Bilateral hearing loss | Yes | ||
AMC 0.92 | Bilateral RVU | Congenital right ptosis, prominent lips, abnormal ear | ||||||||||||
Megaureter | ||||||||||||||
B | 6262 | M/13/L | c.[758G > A];[758G > A]; | 7 months | ANC 0.54 | Mild anemia | G-CSF | Yes stomatitis Pneunonitis | No | No | Prominent veins | m | Kabuki syndrome like | Yes |
p.[R253H];[R253H] | AMC 0.56 | Portal cavernoma | ||||||||||||
Cerebral palsy | ||||||||||||||
C | 5248 | F/19/L | c.[829C > T];[677 +1G > A] | New born | ANC 0.3 | No | G-CSF | Yes | Mild dilatation of ascendant aorta | No | Prominent veins | No | Myopathy Polyarthritis | No |
p.[Q277*]; [?] | AMC 1.276 | Raynaud Hyperopia Gastroesophageal reflux urinary incontinence, Loose stools | ||||||||||||
D | 5643 | M/17/L | c.[481C > T];[481C > T] | New born | ANC 0.405 | Mild Anemia | G-CSF | Yes | Aortic insufficiency | Cryptorchidism micropenis | Prominent veins | Failure to thrive | Narrowed thorax | No |
p.[R161*];[R161*] | AMC 0.31 | Mild Thrombocytopenia | LD steroid | Steatorrhea | Inguinal hernia | |||||||||
IBD | ||||||||||||||
E | 6536 | M/16/L | c.[778G > C];[778G > C] | New born | ANC 1.071 | No | Yes | ASD Aortic insufficiency | Cryptorchidism | Prominent veins | No | Frontal bossing, board nasal bridge, jug ear Right strabism Umbilical hernia | No | |
p.[G260R];[G260R] | AMC: 0.41 | Tricuspid regurgitation/surgery | Bilateral RVU | Bilateral deafness | ||||||||||
6420 | F/3/L | New born | ANC 0.4 | No | No Yes but no with antibiotic prophylaxis | ASD Primary pulmonary hypertension | No | No | No | Board nasal bridge | No | |||
AMC 0.756 | ||||||||||||||
F | 5273 | F/50 L | c.[778G > C];[778G > C] | 7 months | ANC 0.7 | Severe Anemia | G-CSF | Yes Pneumonitis cellulitis | ASD/surgery | Cryptorchidism | Prominent veins | IBD | HTAP, dwarfism, Deafness | No |
p.[G260R];[G260R] | AMC 0.5 | LD steroid | Bilateral RVU | |||||||||||
G | 5340 | F/29/L | c.[565C > T];[565C > T] | New born | ANC 0.52 | No | G-CSF | Yes | ASD/surgery | A normal pregnancy with normal child | Prominent veins | No | Very high voice | No |
p.[R189*];[R189*] | AMC 0.34 | |||||||||||||
5847 | M/30/D | 4.5 years | ANC 0.565 | Severe Thrombocytopenia | No | Yes | ASD/surgery planned | Cryptorchidism | Prominent veins | No | Precocious pubic hair growth and delayed puberty | No | ||
AMC 0.16 | Mild Anemia | Death/sudden death after sport activity no autopsy | micropenis | |||||||||||
H | 5805 | M/5 D | c.[565C > T];[565C > T] | New born | ANC 1.03 | Mild Anemia | GCSF | Yes sepsis | No | No | Prominent veins | Failure to thrive Enteral nutriti on gastrostomy | Pierre robin sequence | Major intellectual disability with bilateral sus-tentorial atrophy on MRI |
p.[R189*]; [R189*] | AMC 0.69 | Mild Thrombopenia | Lethal pyocyanic sepsis | Brachiocephalic thrombosis |