Skip to main content

Table 1 Patient Characteristics

From: Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype

No

Gender/Age/Family

nNO

HSVMA

Genetics (Mutation)

Clinical Picture

PICADAR

1

Female/ 10 years

Family 1

73.9–98 ppb

Almost static, minimal, residual movement or vibration of cilia tips.

DNAH11:

HET c.2341G > A p. (Glu781Lys) and HET c.7645 + 5G > A

perinatal onset of rhinorrhea, recurrent otitis media, wet cough, blocked nose, rhinosinusitis, asthma bronchiale, situs inversus

10/14

2

Male/ 16 years

Family 1

301 ppb

Slow, stiff and uncoordinated movement, low bending capacity

DNAH11:

HET c.2341G > A p. (Glu781Lys) and HET c.7645 + 5G > A

school-age onset with recurrent rhinosinusitis and chronic wet cough

3/14

3

Female/ 6 years

Family 2

45.8 ppb

Minimal, residual ciliary movement

DNAH11:

HOM c.2341G > A p. (Glu781Lys)

early onset and persistent wet cough, perineal rhinitis, recurrent otitis media, obstructive bronchitis, atopic dermatitis, egg allergy, allergic asthma bronchiale

4/14

4

Female/ 4 years

Family 2

Hyperkinetic, ineffective movement

DNAH11:

HOM c.2341G > A p. (Glu781Lys)

early onset recurrent otitis media, wet cough, situs inversus

10/14

5

Female/ 3 years

Family 2

Minimal, residual ciliary movement

DNAH11:

HOM c.2341G > A p. (Glu781Lys)

neonatal onset of rhinorrhea, slimy and persistent wet cough and recurrent otitis media

6/14