The genetic aspect and morphological appearance of achondrogenesis
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20173146Keywords:
Achondrogenesis, COL2A1, Gen mutation Physis abnormal, SLC26A2, TRIP11Abstract
Achondrogenesis (ACG) is a number of disorders that are the most severe form of congenital chondrodysplasia characterized with bones and cartilage malformation. Generally, characteristic of ACG is a small body, short limbs, and other skeletal abnormalities. As a result of infants with ACG their serious health problems, usually born prematurely, are stillborn, or die shortly after birth from respiratory failure. Currently 3 type variants of ACG such as ACG-1A, ACG-1B and ACG-2. ACG-1A appears to be autosomal recessive (AR), with thyroid hormone receptor interactor 11 (TRIP11) gen mutation, while ACG1B also appears to be AR, with diastrophic dysplasia sulfate transporter or DTDST (SLC26A2) gen mutation. ACG-2 is caused by autosomal dominant (AD), with type 2 collagen (COL2A1) gen mutation. ACG-1A had characterizid such as physis abnormal, vertebral bodies with unossified or smal and oval, skull poorly ossified, periodic acid–Schiff (PAS) stain positive chondrocyte inclusions finding in long bones. ACG-1B had physis abnormal, vertebral bodies with unossified or smal and oval, skull ossified, perichondrocyte collagen rings finding in long bones. ACG-2 also had physis abnormal, metaphyseal cupping, vertebral bodies with unossified or small and oval, enlarged chondrocyte lacunae.
References
Smits P, Bolton AD, Funari V, Hong M, Boyden ED, Lu L et al. Lethal skeletal dysplasia in mice and humans lacking the Golgin GMAP-210. N Engl J Med. 2010;362(2):206-16.
Shree RTR, Saraswathi K. A case report of antenatal diagnosis of achondrogenesis type I. Res J Pharmaceut Biol Chem Sci. 2015;6(6):551-5.
Camera G, Mastroiacovo P. Birth prevalence os skeletal dysplasias in the İtalian multicentric monitoring system for birth defects. Proq Clin Biol Res. 1982;101:441-9.
Borochowitz Z, Lachman R, Adornian GE, Spear G, Jones K, Rimoin DL. Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr. 1988;112:23-31.
van der Harten HJ, Brons JTJ, Dijkstra PF, Niermeyer MF, Meijer CJ, van Giejn HP, et al. Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. Pediatr Pathol. 1988;8:571-97.
Urso FP, Urso MJ. Achondrogenesis in two sibs. Birth Defects. 1974;10:10-17.
Nardi F, Gerlini G, Bonucci E. Achondrogenesis: report on a case, with particular reference to ultrastructure and histochemistry. Virchows Arch A Pathol Anat Histol. 1974;363:311-22.
Molz G, Spycher MA. Achondrogenesis type I: light and electron-microscopic study. Eur J Pediatr. 1980;134:69-74.
Parenti GC. La anosteogenesi. Pathologica (Genova) 1936;28:447-62.
Weisman PS, Kashireddy PV, Ernst LM. Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based differential diagnostic approach in the early midtrimester. Ped Dev Pathol. 2014;17:10-20.
Chen H. Achondrogenesis. Drugs and Diseases. 2013. Jun 26, Available at http://emedicine.staging.medscape.com/article/941176-overview
Whitley CB, Gorlin RJ. Achondrogenesis: new nosology with evidence of genetic heterogeneity. Radiol. 1983;148:693-8.
Superti-Furga A. Achondrogenesis type 1B. J Med Genet. 1996;33:957-61.
Segal NL, Feng R, McGuire SA, Allison DB, Miller S. Genetic and environmental contributions to body mass index: comparative analysis of monozygotic twins, dizygotic twins and same-age unrelated siblings. Int J Obes (Lond). 2009;33(1):37-41.
Parwanto ME, Senjaya H. Dietary intake of mother in childbearing age with BMI <18.5 kg/m2 and has heterozygous variant D327N SHBG genotype (w/v). Int J Community Med Public Health. 2017;4:409-17.
Infante C, Ramos-Morales F, Fedriani C, Bornens M, and Rios RM. GMAP-210, A cis-Golgi network-associated protein, is a minus end microtubule-binding protein. J Cell Biol. 1999;145(1):83-98.
Follit JA, San Agustin JT, Xu F, Jonassen JA, Samtani R et al. The Golgin GMAP210/TRIP11 Anchors IFT20 to the Golgi Complex. PLoS Genet. 2008;4(12):e1000315.
Wilson C, Venditti R, Rega LR, Colanzi A, d’Angelo G, de Matteis A. The Golgi apparatus: an organelle with multiple complex functions. Biochem J. 2011;433:1-9.
Haila S, Hästbacka J, Böhling T, Karjalainen-Lindsberg ML, Kere J, Saarialho-Kere U. SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. J Histochem Cytochem. 2001;49(8):973-82.
Vissing H, D’Alessio M, Lee B, Ramirez F, Godfrey M, Hollister DW. Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of shortlimbed dwarfism. J Biol Chem. 1989;264:18265-7.
Mortier GR, Weis MA, Nuytinck L, King LM, Wilkin DJ, Paepe AD et al. Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 2000;37:263-271.
Nikkels PG. Diagnostic approach to congenital osteochondrodysplasias at autopsy. Diagn Histopathol. 2009;15:413-58.
Gilbert-Barness E. Osteochondrodysplasias: constitutional diseases of bone. In: Gilbert-Barness E, ed. Potter’s Pathology of the Fetus, Infant, and Child. 2nd ed. Philadelphia: Mosby Elsevier;2007:1836-97.
Taner MZ, Kurdoglu M, Taskiran C, Onan MA, Gunaydin G, Himmetoglu O. Prenatal diagnosis of achondrogenesis type I: a case report. Cases J. 2008;1:406.
Tunc SY, Demir V, Agacayak E, Icen MS, Findik FM and Yildizbakan A. A Rare Skeletal Dysplasia: Achondrogenesis Type 1. IJBCS. 2015;4(1):66-70.
Aigner T, Rau T, Niederhagen M, Zaucke F, Schmitz M, Pöhls U et al. Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. Pediatr Dev Pathol. 2007;10:328-34.
Lee HS, Doh JW, Kim CJ, Chi JG. Achondrogenesis type II (Langer-Saldino Achondrogenesis): A case report. J Korean Med Sci. 2000;15:604-8.
Forzano F, Lituania M, Viassolo V, Superti-Furga A, Wildhardt G, Zabel B et al. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ‘‘patchy’’ expression in the mosaic father. Am J of Med Gen Part A. 2007;143A:2815-20.
Hansen K, Sung CJ, Huang C, Pinar H, Singer DB, Oyer CE. Reference values for second trimester fetal and neonatal organ weights and measurements. Pediatr Dev Pathol. 2003;6:160-7.
Elejalde BR, de Elejalde MM. The prenatal growth of the human body determined by the measurement of bones and organs by ultrasonography. Am J Med Genet. 1986;24:575-98.
