Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Taiwanese Journal of Obstetrics and Gynecology

Volumn 51, Issue 1, 2012, Pages 100-105

  Chen, Chih Ping ^a,b,c,d,e   Chang, Tung Yao ^f   Chen, Chen Yu ^a   Wang, Tao Yeuan ^a,e,g   Tsai, Fuu Jen ^c,h   Wu, Pei Chen ^f   Chern, Schu Rern ^a   Wang, Wayseen ^a,i  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e MACKAY MEDICAL COLLEGE   (Taiwan)

^f Taiji Fetal Medicine Center   (Taiwan)

^g NURSING AND MANAGEMENT COLLEGE   (Taiwan)

^h CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

NEK1; Prenatal diagnosis; Type II short rib polydactyly syndrome (Majewski); Ultrasound

Indexed keywords

NEVER IN MITOSIS GENE A PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; APLASIA; ARTICLE; CASE REPORT; CHOROID PLEXUS TUMOR; CLEFT LIP; DIAGNOSTIC IMAGING; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; GENETIC ANALYSIS; GESTATIONAL AGE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTRON; KARYOTYPE 46,XX; KIDNEY POLYCYSTIC DISEASE; LIMB MALFORMATION; MAJEWSKI SYNDROME; MEDICAL HISTORY; MICROMELIA; MUTATIONAL ANALYSIS; NAIL HYPOPLASIA; PERINATAL PERIOD; POLYDACTYLY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; RIB MALFORMATION; SHORT RIB POLYDACTYLY SYNDROME TYPE II; SPLICING DEFECT; SYNDACTYLY; THORAX MALFORMATION; TIBIA;

ABORTION, INDUCED; ADULT; CELL CYCLE PROTEINS; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; PROTEIN-SERINE-THREONINE KINASES; SHORT RIB-POLYDACTYLY SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 84859353758     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.01.020     Document Type: Article

References (18)

1. Lachman R.S. Skeletal dysplasia. Radiology of syndromes, metabolic disorders, and skeletal dysplasias 2007, 1052-1057. Mosby, St Louis. 5th ed. H. Taybi, R.S. Lachman (Eds.).
2. Superti-Furga A., Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet 2007, 143A:1-18.
3. Kannu P., McFarlane J.H., Savarirayan R., Aftimos S. An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. Am J Med Genet 2007, 143A:2607-2611.
4. Mill P., Lockhart P.J., Fitzpatrick E., Mountford H.S., Hall E.A., Reijns M.A.M., et al. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet 2011, 88:508-515.
5. Chen C.-P., Chang T.-Y., Tzen C.-Y., Wang W. Second-trimester sonographic detection of short rib-polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening result. Prenat Diagn 2003, 23:353-355.
6. Wu M.-H., Kuo P.-L., Lin S.-J. Prenatal diagnosis of recurrence of short rib-polydactyly syndrome. Am J Med Genet 1995, 55:279-284.
7. Shindel B., Wise S. Recurrent short rib-polydactyly syndrome with unusual associations. J Clin Ultrasound 1999, 27:143-146.
8. Daskalakis G., Souka A.P., Kavalakis I., Haritos T., Basayiannis C., Antsaklis P., et al. Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family. Fetal Diagn Ther 2006, 21:401-403.
9. Taori K.B., Sharbidre K.G., Krishnan V., Kundargi N., Kulkarni B.R., Satkar V., et al. Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: a case report. J Clin Ultrasound 2009, 37:406-409.
10. Dagoneau N., Goulet M., Geneviève D., Sznajer Y., Martinovic J., Smithson S., et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 2009, 84:706-711.
11. Chen C.-P., Su Y.-N., Chern S.-R., Tsai F.-J., Wu P.-C., Chen P.-T., et al. Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. Taiwan J Obstet Gynecol 2010, 49:481-486.
12. Merrill A.E., Merriman B., Farrington-Rock C., Camacho N., Sebald E.T., Funari V.A., et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet 2009, 84:542-549.
13. Gilissen C., Arts H.H., Hoischen A., Spruijt L., Mans D.A., Arts P., et al. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010, 87:418-423.
14. Letwin K., Mizzen L., Motro B., Ben-David Y., Bernstein A., Pawson T. A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells. EMBO J 1992, 10:3521-3531.
15. Thiel C., Kessler K., Giessl A., Dimmler A., Shalev S.A., von der Haar S., et al. NEK1 mutations cause short-rib polydactyly syndrome type Majewski. Am J Hum Genet 2011, 88:106-114.
16. Beales P.L., Bland E., Tobin J.L., Bacchelli C., Tuysuz B., Hill J., et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet 2007, 39:727-729.
17. Cavalcanti D.P., Huber C., Le Quan Sang K.-H., Baujat G., Collins F., Delezoide A.-L., et al. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet 2011, 48:88-92.
18. Rix S., Calmont A., Scambler P.J., Beales P.L. An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum Mol Genet 2011, 20:1306-1314.