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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