2017 Sec 1 Green Book

Hum Genet (2016) 135:441–450

Table 1   Reported ethnic and phenotypic characteristics of patients evaluated in this study Characteristic Number %

majority of rare variants deemed unlikely to cause hearing loss and not previously reported to be pathogenic were cat- egorized as Variants of Unknown Significance (VUSs).

Sex

Statistical analysis

 Male

561 550

50.1 49.2

 Female

All provided clinical and phenotypic data were recorded. Diag- nostic rates were compared using the Fisher exact test (com- paring a specified group to all other members of the cohort) or Chi-square test (comparing more than 2 groups), with p < 0.05 considered significant. Data were compiled using Microsoft Excel and analyzed using Prism 6 (GraphPad).

 NP

8

0.7

Age when ordered (years)  Age  ≤ 2

415 607

37.1 54.2

 Age 3–17  Age  ≥ 18 Ethnicity  Caucasian

82

7.3

549 128

49.1 11.4

 Hispanic

Results

 African American

51 40 57 25

4.6 3.6 5.1 2.2 0.7 0.6

 Asian

Patients

 Mixed ethnicity  Middle Eastern  Ashkenazi Jewish

1119 unrelated patients were sequentially accrued during the study period. Relations were not included; otherwise, there were no exclusionary criteria. Patient demographics were binned into broad key categories: inheritance, onset, severity, laterality, physical exam and previous genetic test- ing (Fig.  1 ; Table  1 ). No clinical information was provided

8 7

 Other

 NP

254

22.7

Family history  Autosomal recessive  Autosomal dominant

226 141

20.2 12.6

 X-linked

1 8

0.1 0.7

 Ambiguous

60

 No family history

604 139

54.0 12.4

Previous Testing

Onset

Inheritance

Severity Laterality Physical Exam

 NP

*

50

Onset  Congenital  Childhood

**

**

629 325

56.2 29.0

40

*

*

 Adult

18

1.6

**

30

**

 NP

147

13.1

**

*

20

Severity

Solve Rate (%)

 Normal

1

0.1

10

 Mild-moderate  Severe-profound

306 399 413

27.3 35.7 36.9

**

0

 NP

Laterality  Bilaterally symmetric

532

47.5

AD (141)

AR (226)

 Unilateral

69 92

6.2 8.2

Abnormal (233) DFNB1 (99)

No FH (604)

Normal (683)

Bilateral (532)

 Asymmetric

Asymmetric (92) Unilateral (69)

Childhood (325) Adulthood (18)

Congenital (629)

 NP

426

38.1

DFNB1 and Other (19) Other Testing (34)

Mild-Moderate (306)

Not SNHL  Conductive

Severe-Profound (399)

6

0.5 2.1

Fig. 1   Diagnostic rates are dependent on patient-specific clinical and phenotypic characteristics and are shown as the percentage of patients with the noted characteristic. Background shading separates catego- ries. N for each characteristic is listed after the label. Dashed line indicates the overall diagnostic rate for this study (39.3 %). Fisher exact test used to determine statistical significance with * p < 0.05 and ** p < 0.005

 Mixed

24

Physical exam  Normal

683 233 203

61.0 20.8 18.1

 Any abnormality

 NP

13

144