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Antley-Bixler syndrome(ABS)

MedGen UID:
1714404
•Concept ID:
C5234850
•
Disease or Syndrome
Synonym: ABS
SNOMED CT: Antley-Bixler syndrome (62964007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: POR, FGFR2
 
Monarch Initiative: MONDO:0008803
Orphanet: ORPHA83

Definition

A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. [from ORDO]

Professional guidelines

PubMed

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article

Recent clinical studies

Etiology

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.
Keber R, Motaln H, Wagner KD, Debeljak N, Rassoulzadegan M, Ačimovič J, Rozman D, Horvat S
J Biol Chem 2011 Aug 19;286(33):29086-29097. Epub 2011 Jun 25 doi: 10.1074/jbc.M111.253245. PMID: 21705796Free PMC Article
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD, Herman GE
J Lipid Res 2011 Jan;52(1):6-34. Epub 2010 Oct 7 doi: 10.1194/jlr.R009548. PMID: 20929975Free PMC Article

Diagnosis

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Oldani E, Garel C, Bucourt M, Carbillon L
Am J Case Rep 2015 Dec 16;16:882-5. doi: 10.12659/ajcr.895526. PMID: 26670660Free PMC Article
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Hauffa B, Cragun DL, Hopkin RJ, Adachi M, Arlt W
Am J Med Genet A 2004 Jul 30;128A(3):223-31. doi: 10.1002/ajmg.a.30104. PMID: 15216541
Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rumball KM, Pang E, Letts RM
J Pediatr Orthop B 1999 Apr;8(2):139-43. PMID: 10218180
Antley-Bixler syndrome. Description of two new cases and a review of the literature.
Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D
Childs Nerv Syst 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082. PMID: 9224917
Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.
Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C
Am J Med Genet 1983 Jan;14(1):139-47. doi: 10.1002/ajmg.1320140119. PMID: 6829602

Therapy

Anesthetic risks associated with Antley-Bixler syndrome.
Gençay I, Vargel I, Büyükkoçak U, Yazc I, Apan A
J Craniofac Surg 2013 Jan;24(1):e21-3. doi: 10.1097/SCS.0b013e318267be0f. PMID: 23348324
Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.
Horvat S, McWhir J, Rozman D
Drug Metab Rev 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. PMID: 21247357
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Adachi M, Asakura Y, Tachibana K, Shackleton C
Pediatr Int 2004 Oct;46(5):583-9. doi: 10.1111/j.1442-200x.2004.01960.x. PMID: 15491389
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM
J Med Genet 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26. PMID: 10633130Free PMC Article
Fluconazole-induced congenital anomalies in three infants.
Pursley TJ, Blomquist IK, Abraham J, Andersen HF, Bartley JA
Clin Infect Dis 1996 Feb;22(2):336-40. doi: 10.1093/clinids/22.2.336. PMID: 8838193

Prognosis

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Oldani E, Garel C, Bucourt M, Carbillon L
Am J Case Rep 2015 Dec 16;16:882-5. doi: 10.12659/ajcr.895526. PMID: 26670660Free PMC Article
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD
Dev Disabil Res Rev 2013;17(3):197-210. doi: 10.1002/ddrr.1114. PMID: 23798009
Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rumball KM, Pang E, Letts RM
J Pediatr Orthop B 1999 Apr;8(2):139-43. PMID: 10218180
Antley-Bixler syndrome. Description of two new cases and a review of the literature.
Bottero L, Cinalli G, Labrune P, Lajeunie E, Renier D
Childs Nerv Syst 1997 May;13(5):275-80; discussion 281. doi: 10.1007/s003810050082. PMID: 9224917
Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.
Escobar LF, Bixler D, Sadove M, Bull MJ
Am J Med Genet 1988 Apr;29(4):829-36. doi: 10.1002/ajmg.1320290412. PMID: 3041834

Clinical prediction guides

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene.
Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G
Arq Bras Endocrinol Metabol 2012 Nov;56(8):578-85. doi: 10.1590/s0004-27302012000800020. PMID: 23295302
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase.
Kranendonk M, Marohnic CC, Panda SP, Duarte MP, Oliveira JS, Masters BS, Rueff J
Arch Biochem Biophys 2008 Jul 15;475(2):93-9. Epub 2008 Apr 20 doi: 10.1016/j.abb.2008.04.014. PMID: 18455494Free PMC Article
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase.
Marohnic CC, Panda SP, Martásek P, Masters BS
J Biol Chem 2006 Nov 24;281(47):35975-82. Epub 2006 Sep 24 doi: 10.1074/jbc.M607095200. PMID: 16998238
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase.
Adachi M, Asakura Y, Tachibana K, Shackleton C
Pediatr Int 2004 Oct;46(5):583-9. doi: 10.1111/j.1442-200x.2004.01960.x. PMID: 15491389

Recent systematic reviews

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.
Dean B, Chrisp GL, Quartararo M, Maguire AM, Hameed S, King BR, Munns CF, Torpy DJ, Falhammar H, Rushworth RL
J Clin Endocrinol Metab 2020 Mar 1;105(3) doi: 10.1210/clinem/dgz255. PMID: 31825489

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