Alternative titles; symbols
HGNC Approved Gene Symbol: WDR19
Cytogenetic location: 4p14 Genomic coordinates (GRCh38) : 4:39,182,529-39,285,810 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 4p14 | ?Spermatogenic failure 72 | 619867 | Autosomal recessive | 3 |
| Cranioectodermal dysplasia 4 | 614378 | Autosomal recessive | 3 | |
| Nephronophthisis 13 | 614377 | Autosomal recessive | 3 | |
| Senior-Loken syndrome 8 | 616307 | Autosomal recessive | 3 | |
| Short-rib thoracic dysplasia 5 with or without polydactyly | 614376 | Autosomal recessive | 3 |
Using microarray analysis to profile androgen-induced gene expression, Lin et al. (2003) cloned WDR19 from an androgen-sensitive prostate adenocarcinoma cell line cDNA library. They obtained full-length WDR19 by library screening and 5-prime RACE of normal prostate cDNA. The deduced 1,342-amino acid protein contains 6 N-terminal WD repeats, 3 transmembrane helices, and a sequence of about 150 amino acids that shares homology with the clathrin heavy chain (118955) repeat. It also has a vacuolar targeting motif and is distantly related to vacuolating cytotoxin protein from H. pylori. WDR19 shares 89% amino acid identity with mouse Wdr19. Northern blot analysis detected strong expression of a 1.8-kb transcript and low expression of a 3.0-kb transcript in the androgen-sensitive prostate cancer cell line. Transcripts of 1.8, 3.0, 4.5, and 6.8 kb were detected in normal prostate. The 4.5- and 6.8-kb transcripts were also expressed in testis and ovary, and a faint 1.8-kb band was detected in pancreas. RNA dot blot analysis detected strong expression in prostate and weaker expression in cerebellum, pituitary gland, fetal lung, and pancreas. Northern blot analysis and RNA dot blot analysis of mouse tissues showed tissue-specific expression of several variants, with highest overall expression in submaxillary gland, testis, epididymis, and prostate. In situ hybridization of normal human prostate revealed expression in both basal and luminal epithelial cells. No expression was detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniform expression was detected in prostate adenocarcinoma cells.
Lin et al. (2003) determined that the WDR19 gene contains 36 exons and spans 110 kb. The promoter region contains a TATA box and binding sites for AP1 (see 165160) and SP1 (189906). Introns 14 and 27 may function as alternative promoters, resulting in proteins that lack the 6 WD repeats and the transmembrane domains. EST database analysis detected WDR19 transcripts that were alternatively spliced, including use of an optional exon 21A, and other transcripts that utilized alternate polyadenylation sites. Lin et al. (2003) determined that murine Wdr19 gene contains 36 exons and spans at least 60 kb.
By radiation hybrid analysis, Lin et al. (2003) mapped the WDR19 gene to chromosome 4p14-p11.
Lin et al. (2003) determined that WDR19 expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. No WDR19 expression was detected in prostate cancer cell lines that did not express a functional androgen receptor (313700).
In fibroblasts from a healthy individual, Bredrup et al. (2011) detected the WDR19 product IFT144 throughout the cilium, with prominent signals at the base, where it colocalized with RPGRIP1L (610937), and at the ciliary tip.
Bredrup et al. (2011) performed exome sequencing in a sister and brother with cranioectodermal dysplasia (CED4; 614378), also known as Sensenbrenner syndrome, from a Norwegian family in which haplotype analysis had excluded the 3 known causative genes for this disorder. They identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, 608151.0001 and R1103X, 608151.0002). Screening of all coding exons of WDR19 in 9 additional patients with Sensenbrenner syndrome and 16 patients with short-rib thoracic dysplasia (14 diagnosed with Jeune syndrome and 2 diagnosed with short-rib polydactyly; see SRTD5, 614376) revealed homozygosity for a missense mutation in WDR19 in a Dutch patient with Jeune syndrome (L7P; 608151.0003). Independently, exome sequencing in a Moroccan family with isolated nephronophthisis (NPHP13; 614377) revealed compound heterozygosity for mutations in WDR19 that segregated with disease (V345G, 608151.0004; and Y1023X, 608151.0005). Bredrup et al. (2011) concluded that there is a large phenotypic spectrum associated with WDR19 mutations, as previously reported for other intraflagellar transport (IFT) genes.
In 3 unrelated patients with nephronophthisis and retinal dystrophy, features of Senior-Loken syndrome (SLSN8; 616307), and 1 patient with nephronophthisis, Halbritter et al. (2013) identified biallelic mutations in the WDR19 gene (608151.0006-608151.0009). All 4 patients exhibited additional ciliopathy features, including dilatation of the intrahepatic bile ducts and pancreatic and hepatic cysts. The findings broadened the spectrum of ciliary clinical features associated with WDR19 mutations. The patients were ascertained from a larger cohort of 1,056 patients with nephronophthisis-related disorders who underwent genetic analysis.
In a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), Coussa et al. (2013) identified homozygosity for the L710S mutation in the WDR19 gene (608151.0001). Screening of 96 patients with a diagnosis of Senior-Loken syndrome revealed WDR19 mutations in 5 probands (see, e.g., 608151.0006-608151.0007 and 608151.0012-608151.0013).
Fehrenbach et al. (2014) reported a girl of Filipino ancestry with a complex phenotype and mutation in the WDR19 gene, who died at age 8.5 years due to acute respiratory distress syndrome (ARDS). Hypotonia, joint hypermobility, and facial dysmorphisms were noted at birth, and psychomotor development was significantly retarded. Other features included short stature, mild skeletal anomalies, strabismus, deafness, subdural hygroma, hepatosplenomegaly, and end-stage renal failure. Renal biopsy revealed tubular atrophy, interstitial fibrosis, and segmental glomerulosclerosis. After renal transplantation at age 8.5 years, she developed a febrile infection resulting in fulminant ARDS and died. Although the patient's features were nonspecific and not characteristic for any known syndrome, the phenotypic pattern was reminiscent of a ciliopathy, and screening of cilia-related genes revealed homozygosity for a missense mutation (G495R) in the WDR19 gene. Her unaffected mother was heterozygous for the variant, which was not found in public variant databases; DNA was unavailable from the father.
In a cohort of 48 unrelated Korean pediatric patients with clinical suspicion of nephronophthisis (NPHP), Lee et al. (2015) performed targeted exome sequencing for ciliopathy-related genes and identified 3 patients who were compound heterozygous for missense mutations in the WDR19 gene: all carried the previously reported R1178Q variant (608151.0010) on 1 allele. The second mutation in 1 proband and his 2 affected sisters was E1235K (608151.0009); in another proband, who also had retinitis pigmentosa (SLSN8; 616307), it was a G495C substitution (608151.0014); and in the third proband it was an L618P substitution (608151.0015). Sanger sequencing in an unrelated Korean girl with Senior-Loken syndrome revealed homozygosity for the R1178Q variant.
In 2 unrelated Japanese girls with Sensenbrenner syndrome, Yoshikawa et al. (2017) identified compound heterozygosity for mutation in the WDR19 gene: both carried the recurrent R1178Q variant on one allele, with patient 1 carrying a 1-bp deletion (608151.0016) and patient 2 a splice site mutation (608151.0017) on the second allele. Sanger sequencing confirmed the mutations and their segregation with disease in both families. One of the patients exhibited dysplastic kidneys rather than the typical nephronophthisis histopathology, suggesting that WDR19-associated renal phenotypes may be more diverse than previously reported.
In a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; 614376), Montolio-Marzo et al. (2020) identified compound heterozygosity for missense mutations in the WDR19 gene, H481R (608151.0018) and A914D (608151.0019). Sanger sequencing confirmed the mutations and their segregation with disease in the family.
In an infertile Han Chinese man with spermatogenic failure (SPGF72; 619867) due to multiple morphologic abnormalities of the flagella, Ni et al. (2020) identified homozygosity for a missense mutation in the WDR19 gene (K1271E; 608151.0020) that segregated with disease in the family and was not found in public variant databases. The proband did not exhibit any ocular, skeletal, hepatic, or renal anomalies. Noting that the K1271E variant was the only WDR19 mutation reported to occur within the C-terminal DZR domain, the authors suggested that the variant might have only minimal effects on protein structure and function, and speculated that at least partial ciliary function was retained in the patient.
Using an N-ethyl-N-nitrosourea mutation screen, Ashe et al. (2012) identified a mouse mutant, 'twinkle-toes' (twt), resulting from a hypomorphic leu750-to-pro (L750P) mutation in the tetratricopeptide repeat domain of Wdr19. Twt mice showed a number of skeletal and craniofacial anomalies similar to human phenotypes resulting from WDR19 mutations. Homozygous twt embryos survived to near birth with nearly penetrant exencephaly and other dysmorphic features, including cleft lip and palate, anopthalmia, short ribs, and limb polydactyly. Heterozygous mice were indistinguishable from wildtype.
By analysis of ejaculates from 794 Brown Swiss bulls and genomewide association testing, Hiltpold et al. (2020) identified a quantitative trait locus on bovine chromosome 6 that was associated with sperm motility, head and tail anomalies, and insemination success. The QTL effect was replicated in an independent cohort of 2,481 Brown Swiss bulls. Analysis of whole-genome sequencing data revealed a synonymous variant in the WDR19 gene that was in linkage disequilibrium with the fertility-associated haplotype. Transcription analysis demonstrated that the variant activates a cryptic splice site and eliminates 3 evolutionarily conserved amino acids; Western blot showed reduced WDR19 protein in testicular tissue of heterozygous bulls that was reduced even further in homozygotes. Semen quality of the homozygous bulls was only slightly reduced compared to heterozygous or noncarrier bulls; however, more ejaculates were rejected for artificial insemination due to less than 70% motile sperm in homozygous than either heterozygous or noncarrier bulls, and fertility of homozygous bulls was reduced.
Cranioectodermal Dysplasia 4
In a Norwegian sister and brother with cranioectodermal dysplasia-4 (CED4; 614378), also known as Sensenbrenner syndrome, Bredrup et al. (2011) identified compound heterozygosity for a 2129T-C transition in exon 18 of the WDR19 gene, resulting in a leu710-to-ser (L710S) substitution, and a 3307C-T transition in exon 30, resulting in an arg1103-to-ter (R1103X; 608151.0002) substitution. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in 422 Norwegian controls. No IFT144 was detected in the cilia of patient fibroblasts, indicating a complete loss of function; in addition, there was significant reduction in the number of ciliated cells as well as in cilium length of most cilia that were observed compared to cilia of control fibroblasts.
Senior-Loken Syndrome 8
In affected members of a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), who were negative for mutation in all known autosomal recessive retinitis pigmentosa-associated genes, Coussa et al. (2013) identified homozygosity for the c.2129T-C mutation (c.2129T-C, NM_025132.3) in the WDR19 gene, resulting in the L710S substitution.
Functional Studies of L710S and R1103X Mutations
Ishida et al. (2021) found that expression of IFT144 with the L710S mutation in IFT144-knockout cells rescued both moderately compromised ciliogenesis and abnormal localization of ciliary proteins. In contrast, expression of IFT144 with the R1103X mutation in IFT144-knockout cells exacerbated ciliogenesis defects. Coexpression of both R1103X and L710S in IFT144-knockout cells, mimicking compound heterozygous patients, resulted in severe ciliogenesis defects, but not as severe as those in IFT144-knockout cells expressing R1103X alone.
For discussion of the arg1103-to-ter (R1103X) mutation in the WDR19 gene that was found in compound heterozygous state in patients with Sensenbrenner syndrome (CED4; 614378) by Bredrup et al. (2011), see 608151.0001.
In a 22-year-old Dutch woman diagnosed with Jeune syndrome (SRTD5; 614376), originally reported by de Vries et al. (2010), Bredrup et al. (2011) identified homozygosity for a 20T-C transition in exon 2 of the WDR19 gene, resulting in a leu7-to-pro (L7P) substitution at a highly conserved residue. The mutation was found in heterozygosity in her unaffected parents, and was not detected in her unaffected sister. Analysis of patient fibroblasts showed no major differences in cilia number or length compared to controls; however, accumulation of IFTB-complex proteins was observed in ciliary tips in a low but significant number of cells, whereas it was virtually absent in controls.
In 4 affected sibs from a nonconsanguineous Moroccan family with nephronophthisis-13 (NPHP13; 614377), Bredrup et al. (2011) identified compound heterozygosity for a 1034T-G transversion in exon 12 of the WDR19 gene, resulting in a val345-to-gly (V345G) substitution, and a 1-bp duplication (3068dupA) in exon 27, resulting in a tyr1023-to-ter (Y1023X; 608151.0005) substitution. Their unaffected father was heterozygous for Y1023X, whereas their 2 unaffected sibs were heterozygous for V345G; the missense mutation was not found in 200 ethnically matched controls. However, their asymptomatic mother, who was born of consanguineous parents, was found to be homozygous for the V345G mutation. Based on bioinformatic analyses and the location of the mutation, Bredrup et al. (2011) proposed that the V345G variant only mildly affects IFT144 function, but that association with the nonsense mutation results in a renal phenotype.
For discussion of the 1-bp duplication in the WDR19 gene (3068dupA) that was found in compound heterozygous state in patients with nephronophthisis-13 (NPHP13; 614377) by Bredrup et al. (2011), see 608151.0004.
In a Spanish patient with Senior-Loken syndrome-8 (SLSN8; 616307), Halbritter et al. (2013) identified compound heterozygous mutations in the WDR19 gene: a 1-bp duplication (c.641dupT), resulting in a frameshift and premature termination (Leu214PhefsTer5), and a c.1477G-C transversion, resulting in an asp493-to-his (D493H; 608151.0007) substitution. The patient had onset of end-stage renal disease at age 17 years as well as retinal dystrophy.
In a patient with retinal dystrophy and nephronophthisis, Coussa et al. (2013) identified compound heterozygosity for the c.641dupT mutation (c.641dupT, NM_025132.3) and the D493H mutation in the WDR19 gene.
For discussion of the asp493-to-his (D493H) mutation in the WDR19 gene that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; 616307) by Halbritter et al. (2013), see 608151.0006.
In a patient with retinal dystrophy and nephronophthisis, Coussa et al. (2013) also identified compound heterozygosity for the c.641dupT mutation (608151.0006) and a c.1477G-C transversion (c.1477G-C, NM_025132.3), resulting in the D493H mutation, in the WDR19 gene.
In an Egyptian patient with nephronophthisis-13 (NPHP13; 614377), Halbritter et al. (2013) identified compound heterozygous mutations in the WDR19 gene: a c.682C-T transition, resulting in a gln228-to-ter (Q228X) substitution, and a c.3703G-A transition, resulting in a glu1235-to-lys (E1235K; 608151.0009) substitution. The patient developed end-stage renal disease at age 5 years, and also had dilatation of the intrahepatic bile ducts.
For discussion of the glu1235-to-lys (E1235K) mutation in the WDR19 gene that was found in compound heterozygous state in a patient with nephronophthisis-13 (NPHP13; 614377) by Halbritter et al. (2013), see 608151.0008.
For discussion of the E1235K mutation in the WDR19 gene that was found in compound heterozygous state in 3 Korean sibs with NPHP13 by Lee et al. (2015), see 608151.0010.
In a patient from Oman with Senior-Loken syndrome-8 (SLSN8; 616307), Halbritter et al. (2013) identified a homozygous c.3533G-A transition in the WDR19 gene, resulting in an arg1178-to-gln (R1178Q) substitution. The patients developed end-stage renal disease in infancy, and also had polydactyly, dilatation of the intrahepatic bile ducts, and retinal dystrophy. Another patient with early-onset end-stage renal disease, cortical blindness, and hepatic and pancreatic cysts was compound heterozygous for R1178Q and a c.3565+1G-A transition in the WDR19 gene (608151.0011), resulting in a splice site mutation.
In 3 Korean sibs (I-1, I-2, and I-3) and an unrelated 1.5-year-old Korean boy (III-1) with nephronophthisis (NPHP13; 614377), Lee et al. (2015) identified compound heterozygosity for the R1178Q mutation and another missense mutation in the WDR19 gene. In the 3 sibs, the second mutation was the previously reported E1235K variant (608151.0009), and in the unrelated boy, it was a c.1853T-C transition, resulting in a leu618-to-pro (L618P; 608151.0015) substitution. The authors also identified WDR19 mutations in 2 Korean patients with NPHP and retinitis pigmentosa (Senior-Loken syndrome): a 15-year-old boy (II-1) was compound heterozygous for the R1178Q variant and a c.1483G-T transversion, resulting in a gly495-to-cys (G495C; 608151.0014) substitution; and a 6-year-old girl was homozygous for the R1178Q variant. Sanger sequencing confirmed the mutations and their segregation with disease in each family, and none was detected in 100 Korean controls or in an in-house exome database of 80 Korean individuals.
In 2 unrelated Japanese girls with Sensenbrenner syndrome (CED4; 614378), Yoshikawa et al. (2017) identified compound heterozygosity for mutation in the WDR19 gene. Both carried the recurrent R1178Q variant in exon 32 on one allele. Patient 1 also had a 1-bp deletion (c.953delA; 608151.0016) in exon 10, causing a frameshift predicted to result in a premature termination codon (Asn319IlefsTer16), whereas patient 2 had a splice site mutation (c.2645+1G-T; 608151.0017) in intron 23 on the second allele. Sanger sequencing confirmed the mutations and their segregation with disease in both families. The deletion and splicing mutations were not found in the dbSNP or HGVD databases. (Yoshikawa et al. (2017) referred to the splice site mutation as c.2654+1G-T in the text of the report.)
For discussion of the splice site mutation in the WDR19 gene (c.3565+1G-A) that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; 616307) by Halbritter et al. (2013), see 608151.0010.
In a patient with retinal dystrophy and nephronophthisis (SLSN8; 616307), Coussa et al. (2013) identified compound heterozygosity for a c.203T-A transversion (c.203T-A, NM_025132.3) in the WDR19 gene, resulting in a val68-to-asp (V68D) substitution, and a splice site mutation (c.407-2A-G; 608151.0013).
For discussion of the splice site mutation in the WDR19 gene (c.407-2A-G, NM_025132.3) that was found in compound heterozygous state in a patient with Senior-Loken syndrome-8 (SLSN8; 616307) by Coussa et al. (2013), see 608151.0012.
For discussion of the c.1483G-T transversion in the WDR19 gene, resulting in a gly495-to-cys (G495C) substitution, that was found in compound heterozygous state in a 15-year-old Korean boy (II-1) with Senior-Loken syndrome (SLSN8; 616307) by Lee et al. (2015), see 608151.0010.
For discussion of the c.1853T-C transition in the WDR19 gene, resulting in a leu618-to-pro (L618P) substitution, that was found in compound heterozygous state in a 1.5-year-old Korean boy (III-1) with nephronophthisis (NPHP13; 614377) by Lee et al. (2015), see 608151.0010.
For discussion of the 1-bp deletion (c.953delA, NM_025132.3) in exon 10 the WDR19 gene, causing a frameshift predicted to result in a premature termination codon (Asn319IlefsTer16), that was found in compound heterozygous state in a Japanese girl (patient 1) with Sensenbrenner syndrome (CED4; 614378) by Yoshikawa et al. (2017), see 608151.0010.
For discussion of the splice site mutation (c.2645+1G-T, NM_025132.3) in intron 23 of the WDR19 gene, that was found in compound heterozygous state in a Japanese girl (patient 2) with Sensenbrenner syndrome (CED4; 614378) by Yoshikawa et al. (2017), see 608151.0010.
In a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; 614376), Montolio-Marzo et al. (2020) identified compound heterozygosity for missense mutations in the WDR19 gene: a c.1442A-G transition (c.1442A-G, NM_025132) in exon 14, resulting in a his481-to-arg (H481R) substitution, and a c.2741C-A transversion in exon 25 of the WDR19 gene, resulting in an ala914-to-asp (A914D; 608151.0019) substitution. Sanger sequencing confirmed the mutations and their segregation with disease in the family. Neither variant was found in the gnomAD database, but the A914D substitution was present at very low minor allele frequency (8.293 x 10(-6)) in the ExAC database.
For discussion of the c.2741C-A transversion (c.2741C-A, NM_025132) in exon 25 of the WDR19 gene, resulting in an ala914-to-asp (A914D) substitution, that was found in compound heterozygous state in a 6-year-old Spanish boy with Mainzer-Saldino syndrome (SRTD5; 614376) by Montolio-Marzo et al. (2020), see 608151.0018.
In an infertile Han Chinese man with multiple morphologic abnormalities of the flagella (SPGF72; 619867), Ni et al. (2020) identified homozygosity for a c.3811A-G transition in exon 34 of the WDR19 gene, resulting in a lys1271-to-glu (K1271E) at a highly conserved residue within the DZR domain. Sanger sequencing confirmed that his unaffected first-cousin parents were heterozygous for the mutation, which not found in the 1000 Genomes Project, ESP6500, or gnomAD databases. Immunofluorescence analysis demonstrated that WDR19 was absent from patient sperm, and qPCR showed that the level of mRNA in patient sperm was significantly lower than that of a healthy control. In addition, immunostaining revealed mislocalization of IFT140 (614620) and IFT88 (600595) in patient sperm, as well as absence of SPAG6 (605730). The proband exhibited no ocular, skeletal, hepatic, or renal anomalies. Noting that the K1271E variant was the only WDR19 mutation reported to occur within the C-terminal DZR domain, the authors suggested that the variant might have only minimal effects on protein structure and function, and speculated that at least partial ciliary function was retained in the patient.
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