| Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family. | Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
Fozia F, Shah K, Nazli R, Khan SA, Ahmad I, Mohammad N, Khan S, Alotaibi A., Free PMC Article | 05/21/2022 |
| Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies. | Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.
Alharbi MS., Free PMC Article | 11/22/2021 |
| Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17 in a Pakastani family with Woodhouse-Sakati syndrome. This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17. | Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
Shah K, Jan A, Ahmad F, Basit S, Ramzan K, Ahmad W. | 04/18/2020 |
| Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*). | Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.
Gurbuz F, Desai S, Diao F, Turkkahraman D, Wranitz F, Wood-Trageser M, Shin YH, Kotan LD, Jiang H, Witchel S, Gurtunca N, Yatsenko S, Mysliwec D, Topaloglu K, Rajkovic A. | 10/5/2019 |
| The phenotypic variability of Woodhouse-Sakati syndrome due to c.436delC founder DCAF17 mutation may have a wider range than previously recognized. | Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
Almeqdadi M, Kemppainen JL, Pichurin PN, Gavrilova RH., Free PMC Article | 12/1/2018 |
| This signifies the vital yet unexplored role of DCAF17 both in development and maintenance of adult tissues homeostasis. | Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
Ali RH, Shah K, Nasir A, Steyaert W, Coucke PJ, Ahmad W. | 07/1/2017 |
| two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported. | Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.
Abdulla MC, Alazami AM, Alungal J, Koya JM, Musambil M. | 04/18/2016 |
| Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. | Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
Nanda A, Pasternack SM, Mahmoudi H, Ishorst N, Grimalt R, Betz RC. | 09/27/2014 |
| The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of DCAF17. | The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP. | 02/1/2014 |
| Pakistani family with clinical manifestations of Woodhouse-Sakati Syndrome; DNA sequence analysis revealed a novel splice site mutation (c.321 + 1 G > A) in the gene C2orf37, mapped on chromosomes 2q22.3-2q35 | A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.
Habib R, Basit S, Khan S, Khan MN, Ahmad W. | 02/25/2012 |
| Mutations in C2orf37 are responsible for Woodhouse-Sakati syndrome. | Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A., Free PMC Article | 02/11/2012 |
| A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome | A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA. | 04/2/2011 |
| C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients | C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. | 03/24/2011 |
| Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. | Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS., Free PMC Article | 01/21/2010 |