Table 1 Demographic characteristics and primary symptoms of all study participants

From: Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

 

All probands

Pediatric probandsa

Adult probandsa

Total

100

79

21

Male

57 (57%)

48 (61%)

9 (43%)

Female

43 (43%)

31 (39%)

12 (57%)

ES or GS nontrio sequencing

16 (16%)

8 (10%)

8 (38%)

ES or GS trio sequencing

84 (84%)

71 (90%)

13 (62%)

Primary symptomsb

   

 Neurology

47 (47%)

37 (47%)

10 (48%)

 Musculoskeletal and orthopedics

21 (21%)

13 (17%)

8 (38%)

 Multiple congenital anomalies

10 (10%)

10 (13%)

0 (0%)

 Gastroenterology

7 (7%)

5 (7%)

2 (10%)

 Endocrinology

4 (4%)

4 (6%)

0 (0%)

 Dermatology

3 (3%)

3 (4%)

0 (0%)

 Allergies and disorders of the immune system

2 (2%)

2 (3%)

0 (0%)

 Infectious diseases

2 (2%)

2 (3%)

0 (0%)

 Cardiology and vascular conditions

2 (2%)

2 (3%)

0 (0%)

 Rheumatology

1 (1%)

0 (0%)

1 (5%)

 Pulmonology

1 (1%)

1 (1%)

0 (0%)

  1. ES exome sequencing, GS genome sequencing.
  2. aPediatric probands were ≤18 year old and adult probands were >18 year old at the time of enrollment.
  3. bNeurology: disorders of the nervous system, including brain and spinal cord; musculoskeletal and orthopedics: structural and functional disorders of muscles, bones, and joints; multiple congenital anomalies: multiple pediatric disorders; gastroenterology: disorder of the stomach and intestines; endocrinology: disorder of the endocrine glands and hormones; dermatology: skin diseases and disorders; allergies and disorders of the immune system; infectious diseases; cardiology and vascular conditions: heart, artery, vein, and lymph disorders; rheumatology: immune disorders of the joints, muscles, and ligaments; pulmonology: lung disorders and diseases.
Back to article page