This report describes ciliary dyskinesia, primary, 22 (CILD22), which is a subtype of primary ciliary dyskinesia; CILD22 is inherited as an autosomal recessive. The human gene implicated in this disease is ZMYND10, which encodes a protein containing a MYND-type zinc finger domain and functions in assembly of the dynein motor. There is a single orthologous gene in Drosophila, Dmel\Zmynd10, for which RNAi-targeting constructs and alleles caused by insertional mutagenesis have been generated.
The human ZMYND10 gene has not been introduced into flies.
Variant(s) implicated in human disease tested (as analogous mutation in fly gene): V14G in the fly Zmynd10 gene (corresponds to V16G in the human ZMYND10 gene).
Animals homozygous for hypomorphic alleles of Dmel\Zmynd10 exhibit auditory perception defects, an uncoordinated phenotype, and male sterility. Sperm bundles of homozygous males exhibit fragmented axonemes and loss of dynein arms. A construct carrying a wild-type Dmel\Zmynd10 gene is able to rescue the male-sterile phenotype of loss-of-function mutations; a comparable construct carrying a gene with the V14G/V16G missense mutation effects only partial rescue.
Drosophila orthologs of several other genes required for assembly of dynein arms and implicated in ciliary dyskinesia in human have been found to affect auditory perception in flies (see FBhh0000437 and FBhh0001028).
[updated Dec. 2019 by FlyBase; FBrf0222196]
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, recurrent ear infections (especially in children) and infertility (especially in males). About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus). [from Genetics Home Reference, primary ciliary dyskinesia; 2016.11.21]
[CILIARY DYSKINESIA, PRIMARY, 22; CILD22](https://omim.org/entry/615444)
[ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 10; ZMYND10](https://omim.org/entry/607070)
See general description of primary ciliary dyskinesia, above.
Primary ciliary dyskinesia-22 (CILD22) is caused by homozygous or compound heterozygous mutation in the ZMYND10 gene. [from MIM:615444; 2016.11.21]
ZMYND10 encodes a protein containing a MYND-type zinc finger domain that functions in assembly of the dynein motor; probably involved in axonemal assembly of inner and outer dynein arms. [from Gene Cards, ZMYND10; 2016.11.21]
One to one: 1 human to 1 Drosophila.
Ortholog of human ZMYND10 gene (1 Drosophila to 1 human). Dmel\Zmynd10 shares 33% identity and 53% similarity with human ZMYND10.
