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.

Fernandez et al.

Fernandez et al. BMC Medical Genetics 2012 13:111   doi:10.1186/1471-2350-13-111

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