Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies

Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies Publisher Pubmed

Hammarsjo A^{1, 2} ; Wang Z^{3, 4} ; Vaz R¹ ; Taylan F¹ ; Sedghi M⁵ ; Girisha KM⁶ ; Chitayat D^{7, 8} ; Neethukrishna K⁶ ; Shannon P⁹ ; Godoy R⁷ ; Gowrishankar K¹⁰ ; Lindstrand A^{1, 2} ; Nasiri J¹¹ ; Baktashian M¹² Show All Authors

Hammarsjo A^{1, 2}
Wang Z^{3, 4}
Vaz R¹
Taylan F¹
Sedghi M⁵
Girisha KM⁶
Chitayat D^{7, 8}
Neethukrishna K⁶
Shannon P⁹
Godoy R⁷
Gowrishankar K¹⁰
Lindstrand A^{1, 2}
Nasiri J¹¹
Baktashian M¹²
Newton PT¹³
Guo L³
Hofmeister W¹
Pettersson M^{1, 2}
Chagin AS¹³
Nishimura G¹⁴
Yan L¹⁵
Matsumoto N¹⁶
Nordgren A^{1, 2}
Miyake N¹⁶
Grigelioniene G^{1, 2}
Ikegawa S³

Show Affiliations

1. Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
2. Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
3. Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan
4. Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College, Beijing, China
5. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
6. Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
7. Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, University of Toronto, Toronto, ON, Canada
8. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada
9. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada
10. Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai Tamilnadu, India
11. Department of Pediatric Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
12. Stud. Research Committee, Department of Modern Sciences and Technologies, Mashhad University of Medical Sciences, Mashhad, Iran
13. Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden
14. Intractable Disease Center, Saitama University Hospital, Saitama, Japan
15. Department of Neurology, China-Japan Friendship Hospital, Beijing, China
16. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

Source: Scientific Reports Published:2017

Abstract

The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning. © 2017 The Author(s).

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Style	Citing Format
MLA	Hammarsjo A, et al.. "Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies." Scientific Reports, vol. 7, no. 1, 2017, pp. -.
APA	Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, ... Ikegawa S (2017). Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies. Scientific Reports, 7(1), -.
Chicago	Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, et al.. "Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies." Scientific Reports 7, no. 1 (2017): -.
Harvard	Hammarsjo A et al. (2017) 'Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies', Scientific Reports, 7(1), pp. -.
Vancouver	Hammarsjo A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, et al.. Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies. Scientific Reports. 2017;7(1):-.
BibTex	@article{ author = {Hammarsjo A and Wang Z and Vaz R and Taylan F and Sedghi M and Girisha KM and Chitayat D and Neethukrishna K and Shannon P and Godoy R and Gowrishankar K and Lindstrand A and Nasiri J and Baktashian M and Newton PT and Guo L and Hofmeister W and Pettersson M and Chagin AS and Nishimura G and Yan L and Matsumoto N and Nordgren A and Miyake N and Grigelioniene G and Ikegawa S}, title = {Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies}, journal = {Scientific Reports}, volume = {7}, number = {1}, pages = {-}, year = {2017} }
RIS	TY - JOUR AU - Hammarsjo A AU - Wang Z AU - Vaz R AU - Taylan F AU - Sedghi M AU - Girisha KM AU - Chitayat D AU - Neethukrishna K AU - Shannon P AU - Godoy R AU - Gowrishankar K AU - Lindstrand A AU - Nasiri J AU - Baktashian M AU - Newton PT AU - Guo L AU - Hofmeister W AU - Pettersson M AU - Chagin AS AU - Nishimura G AU - Yan L AU - Matsumoto N AU - Nordgren A AU - Miyake N AU - Grigelioniene G AU - Ikegawa S TI - Novel Kiaa0753 Mutations Extend the Phenotype of Skeletal Ciliopathies JO - Scientific Reports VL - 7 IS - 1 SP - EP - PY - 2017 ER -

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