Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley–Bixler syndromes

American Journal of Medical Genetics, Part A

Volumn 170, Issue 10, 2016, Pages 2706-2710

  Morton, Jenny E V ^a   Frentz, Sophia ^b   Morgan, Tim ^b   Sutherland Smith, Andrew J ^c   Robertson, Stephen P ^b  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c MASSEY UNIVERSITY   (New Zealand)

Author keywords

craniosynostosis; radiohumeral synostosis; retinoic acid

Indexed keywords

GENOMIC DNA; CYTOCHROME P450 FAMILY 26;

ACROCEPHALOSYNDACTYLY; ADULT; ANTLEY BIXLER SYNDROME; ARTICLE; BIALLELIC MISSENSE MUTATION; BONE ANCHORED HEARING AID; BONE DENSITY; BRAIN VENTRICLE PERITONEUM SHUNT; CAMPTODACTYLY; CASE REPORT; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; CONDUCTION DEAFNESS; COPY NUMBER VARIATION; CYP26B1 GENE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; ELBOW DISEASE; FACE DYSMORPHIA; FEMALE; FGFR1 GENE; FGFR2 GENE; FGFR3 GENE; FORCEPS DELIVERY; GENE; GENE SEQUENCE; GENITAL MALFORMATION; GESTATIONAL AGE; HUMAN; HUMERUS SHAFT FRACTURE; HYDROCEPHALUS; KARYOTYPE; LEARNING DISORDER; MENARCHE; MICROARRAY ANALYSIS; MISSENSE MUTATION; POR GENE; PRIORITY JOURNAL; SKULL MALFORMATION; SKULL SURGERY; SPEECH DELAY; STEROID URINE LEVEL; SUTURAL RELEASE SURGERY; TWIST GENE; X RAY; X RAY ABSORPTION SPECTROSCOPY; YOUNG ADULT; ABNORMALITIES; ACROCEPHALOSYNDACTYLIA; ALLELE; AMINO ACID SUBSTITUTION; ANTLEY-BIXLER SYNDROME PHENOTYPE; CHEMISTRY; DNA MUTATIONAL ANALYSIS; FACIES; GENETICS; HOMOZYGOTE; MOLECULAR MODEL; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; SKULL; X-RAY COMPUTED TOMOGRAPHY;

ACROCEPHALOSYNDACTYLIA; ALLELES; AMINO ACID SUBSTITUTION; ANTLEY-BIXLER SYNDROME PHENOTYPE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; HOMOZYGOTE; HUMANS; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; RETINOIC ACID 4-HYDROXYLASE; SKULL; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84988024342     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37804     Document Type: Article

References (21)

1. Abu-Abed S, MacLean G, Fraulob V, Chambon P, Petkovich M, Dolle P. 2002. Differential expression of the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during murine organogenesis. Mech Dev 110:173–177.
2. Antley R, Bixler D. 1975. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser 11:397–401.
3. Arlt W. 2007. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord 8:301–307.
4. Conaway HH, Henning P, Lerner UH. 2013. Vitamin a metabolism, action, and role in skeletal homeostasis. Endocr Rev 34:766–797.
5. Duester G. 2008. Retinoic acid synthesis and signaling during early organogenesis. Cell 134:921–931.
6. Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Miller WL. 2004. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley–Bixler syndrome. Nat Genet 36:228–230.
7. James AW, Levi B, Xu Y, Carre AL, Longaker MT. 2010. Retinoic acid enhances osteogenesis in cranial suture-derived mesenchymal cells: Potential mechanisms of retinoid-induced craniosynostosis. Plast Reconstr Surg 125:1352–1361.
8. Kwasigroch TE, Bullen M. 1991. Effects of isotretinoin (13-cis-retinoic acid) on the development of mouse limbs in vivo and in vitro. Teratology 44:605–616.
9. Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP. 2011. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. Am J Hum Genet 89:595–606.
10. McNicholas S, Potterton E, Wilson KS, Noble ME. 2011. Presenting your structures: The CCP4mg molecular-graphics software. Acta Crystallogr D Biol Crystallogr 67:386–394.
11. Mic FA, Sirbu IO, Duester G. 2004. Retinoic acid synthesis controlled by Raldh2 is required early for limb bud initiation and then later as a proximodistal signal during apical ectodermal ridge formation. J Biol Chem 279:26698–26706.
12. Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A. 2007. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 80:550–560.
13. Promislow JH, Goodman-Gruen D, Slymen DJ, Barrett-Connor E. 2002. Retinol intake and bone mineral density in the elderly: The Rancho Bernardo study. J Bone Miner Res 17:1349–1358.
14. Rizzo R, Lammer EJ, Parano E, Pavone L, Argyle JC. 1991. Limb reduction defects in humans associated with prenatal isotretinoin exposure. Teratology 44:599–604.
15. Sakai Y, Meno C, Fujii H, Nishino J, Shiratori H, Saijoh Y, Rossant J, Hamada H. 2001. The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo. Genes Dev 15:213–225.
16. Scott RR, Miller WL. 2008. Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res 69:266–275.
17. Tahayato A, Dolle P, Petkovich M. 2003. Cyp26C1 encodes a novel retinoic acid-metabolizing enzyme expressed in the hindbrain, inner ear, first branchial arch and tooth buds during murine development. Gene Expr Patterns 3:449–454.
18. Vogels A, Fryns JP. 2006. Pfeiffer syndrome. Orphanet J Rare Dis 1:19.
19. Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y. 2015. The I-TASSER Suite: Protein structure and function prediction. Nat Methods 12:7–8.
20. Yashiro K, Zhao X, Uehara M, Yamashita K, Nishijima M, Nishino J, Saijoh Y, Sakai Y, Hamada H. 2004. Regulation of retinoic acid distribution is required for proximodistal patterning and outgrowth of the developing mouse limb. Dev Cell 6:411–422.
21. Yip JE, Kokich VG, Shepard TH. 1980. The effect of high doses of retinoic acid on prenatal craniofacial development in Macaca nemestrina. Teratology 21:29–38.