Table 1.
Summary of clinical features of 51 patients with severe congenital neutropenia type 4 (SCN4) including the two adult siblings described in this report
|
FEATURES |
This report |
Banka, Chervinsky et al, 2010A |
Boztug et al, 2009 |
Arostegui et al, 2009 |
Xia et al, 2009 |
Banka, Newman et al, 2010B |
Germes-hausen et al, 2010 |
Boztug, Rosenberg et al, 2012 |
Smith et al, 2012 |
Alizadeh et al., 2011 |
McDerm-ott et al, 2010 |
Gatti et al, 2011 |
Milá et al., 2011 |
Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (n=2) | (n=4) | (n=12) | (n=1) | (n=2) | (n=2) | (n=2) | (n=16) | (n=4)C | (n=2) | (n=2D) | (n=1) | (n=1) | (n=51) | |
|
Cardiac | ||||||||||||||
| Atrial septal defect |
2/2 |
2/4 |
7/12 |
1/1 |
2/2E |
2/2 |
2/2 |
15/16 |
1/4 |
2/2 |
1/2 |
1/1 |
0/1 |
38/51 |
| PDA |
0/2 |
2/4 |
1/12 |
0/1 |
0/2 |
0/2 |
0/2 |
2/16 |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
5/51 |
| Valvular defects |
1/2 |
1/4F |
2/12G |
0/1 |
0/2 |
0/2 |
1/2H |
4/16I |
1/4J |
0/2 |
1/2K |
1/1L |
0/1 |
12/51 |
| Hypoplastic left heart |
0/2 |
0/4 |
0/12 |
0/1 |
0/2 |
0/2 |
0/2 |
1/16 |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
1/51 |
| Other |
0/2 |
0/4 |
0/12 |
0/1 |
1/2E |
0/2 |
0/2 |
0/16 |
1/4J |
0/2 |
1/2K |
0/1 |
1/1M |
4/51 |
|
Pulmonary | ||||||||||||||
| Pulmonary hypertension |
1/2 |
1/4N |
0/12 |
0/1 |
0/2 |
2/2O |
0/2 |
0/16 |
0/4 |
0/2 |
1/2K |
0/1 |
0/1 |
5/51 |
| Other |
0/2 |
0/4 |
1/12P |
0/1 |
0/2 |
0/2 |
0/2 |
0/16 |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
1/51 |
|
Birth defects | ||||||||||||||
| Cryptorchidism |
1/1 |
1/2 |
4/6 |
1/1 |
0/2Q |
1/1 |
1/1 |
5/11 |
0/3 |
0/2 |
1/1 |
1/1 |
1/1 |
17/33 |
| Other genital |
0/2 |
0/4 |
1/12R |
0/1 |
0/2 |
0/2 |
1/2S |
4/16T |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
6/51 |
| Renal/ureters |
1/2 |
1/4U |
1/12V |
0/1 |
0/2 |
0/2 |
0/2 |
6/16 |
0/4 |
1/2 |
0/2 |
0/1 |
0/1 |
10/51 |
| Cleft palate |
0/2 |
0/4 |
1/12 |
0/1 |
0/2 |
0/2 |
0/2 |
0/16 |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
1/51 |
| Other |
0/2 |
1/4W |
0/12 |
0/1 |
0/2 |
2/2X |
0/2 |
4/16Y |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
7/51 |
|
Features in infancy/childhood | ||||||||||||||
| Prominent skin venous pattern |
2/2 |
4/4 |
10/12 |
1/1 |
NA |
NA |
2/2 |
14/16 |
0/4 |
1/2 |
2/2 |
1/1 |
1/1 |
38/47 |
| Poor growth/FTT |
0/2 |
4/4 |
3/12 |
1/1 |
NA |
2/2 |
1/2 |
7/16 |
1/4 |
1/2 |
2/2 |
0/1 |
0/1 |
22/49 |
| Microcephaly (relative) |
0/2 |
0/4 |
2/12 |
0/1 |
NA |
0/2 |
1/2 |
0/16 |
0/4 |
0/2 |
2/2 |
0/1 |
0/1 |
5/49 |
| DD/LD |
0/2 |
4/4 |
NA |
1/1 |
NA |
NA |
1/2 |
2/16 |
0/4 |
NA |
0/2 |
0/1 |
0/1 |
8/33 |
| SNHL or hearing loss |
0/2 |
0/4 |
2/12 |
0/1 |
NA |
NA |
1/2 |
2/16 |
0/4 |
0/2 |
2/2 |
1/1 |
0/1 |
8/47 |
|
Features in adolescence /adulthood | ||||||||||||||
| Varicose veins |
2/2 |
3/3 |
NA |
NA |
NA |
NA |
NA |
0/5 |
0/2 |
NA |
NA |
NA |
NA |
5/12 |
| Delayed puberty |
0/2 |
2/3 |
NA |
NA |
NA |
NA |
1/2Z |
2/5 |
0/2 |
NA |
NA |
NA |
NA |
5/14 |
| Intellectual disability |
0/2 |
3/3 |
NA |
NA |
NA |
NA |
1/2 |
0/5 |
0/2 |
NA |
NA |
NA |
NA |
4/14 |
| Short stature |
0/2 |
3/3 |
NA |
NA |
NA |
NA |
1/2 |
1/1 |
1/2 |
NA |
NA |
NA |
NA |
6/10 |
| Crohn diseaseAA |
2/2 |
0/3 |
NA |
0/1 |
NA |
NA |
0/2 |
NA |
2/3 |
NA |
NABB |
NA |
NA |
4/11 |
|
Features in childhood or adulthood | ||||||||||||||
| Growth Hormone deficiency |
0/2 |
0/4 |
0/12 |
0/1 |
0/2 |
0/2 |
0/2 |
2/16 |
0/4 |
0/2 |
0/2 |
0/1 |
0/1 |
2/51 |
| Hepatomegaly &/or splenomegaly |
2/2 |
NA |
3/12 |
0/1 |
0/2 |
1/2 |
0/2 |
2/16 |
1/4 |
0/2 |
0/2 |
0/1 |
0/1 |
9/47 |
| Thrombocytopenia |
2/2 |
1/3 |
5/12 |
1/1 |
2/2 |
2/2 |
2/2 |
10/16 |
0/4 |
0/2 |
2/2 |
1/1 |
1/1 |
29/50 |
|
Patients > age 18 years |
1M (37yr) |
1M (26 yr) |
0/12 |
1M (22yr) |
Ages not given |
0/2 |
1 M (20yr) |
0/16 |
2MCC (30yr, 23 yr) |
0/2 |
0/2 |
0/1 |
0/1 |
10/51 |
| 1 F (38yr) | 2F (29 yr, 25 yr) | 1F (24yr) | ||||||||||||
ASD atrial septal defect, PDA patent ductus arteriosus, FTT failure to thrive, DD developmental delay, LD learning disability, SNHL sensorineural hearing loss, yr age in years, M male, F female.
A. Banka S, Chervinsky E et al., 2010: One large consanguineous Israeli (Arab-Muslim) kindred.
B. Banka S, Newman W et al, 2010: 2 siblings born to non-consanguineous Turkish parents who were initially reported as Dursen syndrome. Both died at 18 months.
C. Smith et al. report four probands and briefly mention one additional patient (an affected sister of the 1st proband; few clinical details are provided).
D. a brother and sister (ages 13 years and 9 years respectively).
E. One patient had an ASD and a coronary aneurysm.
F. Pulmonary valve stenosis.
G. One patient with pulmonary stenosis, another with mitral insufficiency.
H. A 24 year old female with mild mitral and tricuspid insufficiency.
I. Two patients with bicuspid aortic valve (11 yr and 18 yr), one with mitral and tricuspid regurgitation (11 yr), one with mild tricuspid regurgitation (11 yr).
J. One patient with tricuspid insufficiency and patent foramen ovale (11 yrs).
K. At age 13 years, the brother had congenital mitral valve thickening, asmall patent foramen ovale and mild pulmonary hypertension.
L. 10 year old male with tricuspid and mitral regurgitation and an unrepaired secundum ASD.
M. 11 year old male with cardiomyopathy.
N. Patient developed pulmonary hypertension shortly after birth.
O. Both siblings developed pulmonary hypertension, diagnosed in the first few months of life.
P. One patient with a pulmonary venous malformation.
Q. Neither the age nor the sex of the patients was specified.
R. One male with cryptorchidism and genital dysplasia.
S. One male with cryptorchidism and genital dysplasia.
T. One female with discontinous labia majora and minora, two males with micropenis, one male with ambiguous genitalia.
U. Patient had unilateral renal agenesis and hydronephrosis of the remaining kidney.
V. Patient had a urachal fistula.
W. One female with bilateral keratoconus.
X. Both siblings had thymic hypoplasia and a pectus carinatum deformity.
Y. Two cases of cutis laxa: a Persian female and a Turkish male (both with consanguineous parents); two cases with ptosis.
Z. Hypogonadotrophic hypogonadism.
AA. Denominator is number of patients older than age 18 years.
BB. Both siblings had gastrointestinal malabsorption.
CC. The adult affected sister of the first proband was not included; her exact age was not specified and the clinical description was very brief.