Ciliary Dyskinesia

Gene: DNAH1

I don't know

4 unrelated individuals diagnosed with PCD. Homozygous or Chet
However, TEM analysis of bronchial mucosal biopsy specimens were 1x normal and 3x NA
Classification by ACMG deemed 2x as diagnosed and 2x single hits (ie in trans with a VUS)

Created: 9 May 2022, 3:47 a.m. | Last Modified: 9 May 2022, 3:47 a.m.

Panel Version: 1.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 37 MIM#617577

Publications

• 33577779

Variants in this GENE are reported as part of current diagnostic practice

I don't know

OMIM: Chapelin et al. (1997) determined that DNAHC1 belongs to the putative axonemal inner dynein arm DHC group.

PMID: 31507630 - 1 chet patient with kartagener syndrome, a subtype of PCD. Variants were classified as VUS. Additional patient was het for a single nonsense, authors acknowledge missed 2nd hit and that this alone was not causative.

PMID: 25927852 - 2 homozygous siblings with a missense variant and PCD. Proband had chronic rhinitus, situs invertus and was infertile.
Mouse model is described as being infertile and reduced tracheal ciliary movement

PMID: 31765523 - 1 patient with PCD but a single het missense.

PMID: 24360805 - 7 patients (4 different variants) with homozygous variants and infertility due to defective sperm. Microscopy of sperm revealed dynein disorganization

Summary: 2 ok reports of PCD and some mouse model evidence

Created: 6 May 2020, 4:06 a.m. | Last Modified: 6 May 2020, 4:06 a.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Ciliary dyskinesia, primary, 37 617577; Spermatogenic failure 18 617576

Publications

• PMID: 31507630
• 31765523
• 25927852
• 24360805