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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

From: Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

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)

       
  1. 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.
  2. A. Banka S, Chervinsky E et al., 2010: One large consanguineous Israeli (Arab-Muslim) kindred.
  3. 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.
  4. 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).
  5. D. a brother and sister (ages 13 years and 9 years respectively).
  6. E. One patient had an ASD and a coronary aneurysm.
  7. F. Pulmonary valve stenosis.
  8. G. One patient with pulmonary stenosis, another with mitral insufficiency.
  9. H. A 24 year old female with mild mitral and tricuspid insufficiency.
  10. 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).
  11. J. One patient with tricuspid insufficiency and patent foramen ovale (11 yrs).
  12. K. At age 13 years, the brother had congenital mitral valve thickening, asmall patent foramen ovale and mild pulmonary hypertension.
  13. L. 10 year old male with tricuspid and mitral regurgitation and an unrepaired secundum ASD.
  14. M. 11 year old male with cardiomyopathy.
  15. N. Patient developed pulmonary hypertension shortly after birth.
  16. O. Both siblings developed pulmonary hypertension, diagnosed in the first few months of life.
  17. P. One patient with a pulmonary venous malformation.
  18. Q. Neither the age nor the sex of the patients was specified.
  19. R. One male with cryptorchidism and genital dysplasia.
  20. S. One male with cryptorchidism and genital dysplasia.
  21. T. One female with discontinous labia majora and minora, two males with micropenis, one male with ambiguous genitalia.
  22. U. Patient had unilateral renal agenesis and hydronephrosis of the remaining kidney.
  23. V. Patient had a urachal fistula.
  24. W. One female with bilateral keratoconus.
  25. X. Both siblings had thymic hypoplasia and a pectus carinatum deformity.
  26. Y. Two cases of cutis laxa: a Persian female and a Turkish male (both with consanguineous parents); two cases with ptosis.
  27. Z. Hypogonadotrophic hypogonadism.
  28. AA. Denominator is number of patients older than age 18 years.
  29. BB. Both siblings had gastrointestinal malabsorption.
  30. 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.
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BMC Medical Genetics

ISSN: 1471-2350

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