Achondrogenesis type 2
| Achondrogenesis type 2 | |
|---|---|
 | |
| Achondrogenesis type 2 has an autosomal dominant method of inheritance. | |
| Specialty | Medical genetics |
Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births.[1] Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.[2]
Typically, achondrogenesis type II manifests in the perinatal period as short stature, edema/hydropic look, narrow chest with pulmonary hypoplasia, severely short limbs (micromelia), and extraskeletal characteristics (e.g., flat midface, Pierre Robin sequence). Most of these babies are stillborn, delivered before their due date, or pass away from cardiorespiratory failure soon after delivery, meaning that they do not live to term.[3]
Signs and symptoms
[edit]The characteristic features of achondrogenesis type 2 are short arms and legs, a tiny chest with short ribs, lung hypoplasia, a small chin, a prominent forehead, and an enlarged abdomen that may also include hydrops, and polyhydramnios.[4]
Causes
[edit]Mutations in the COL2A1 gene can cause a number of skeletal abnormalities, including achondrogenesis type 2. Instructions for producing a protein that produces type II collagen are provided by this gene. Type II collagen molecule assembly is disrupted by mutations in the COL2A1 gene, impairing the normal development of bones and other connective tissues.[5]
Because achromogenesis type 2 is caused by a mutated gene that only needs one copy in each cell, it is regarded as an autosomal dominant disorder.[5]
References
[edit]- ^ "Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias, 5th ed". Radiology. 249 (3): 776. 2008. doi:10.1148/radiol.2493082537. ISSN 0033-8419.
- ^ Saldino, Ronald M. (1971). "Lethal Short-Limbed Dwarfism: Achondrogenesis and Thanatophoric Dwarfism". American Journal of Roentgenology. 112 (1): 185–197. doi:10.2214/ajr.112.1.185. ISSN 0361-803X. PMID 5582025.
- ^ Gregersen, Pernille Axél; Savarirayan, Ravi (2019-04-25). "Type II Collagen Disorders Overview". University of Washington, Seattle. PMID 31021589. Retrieved 2024-02-25.
- ^ Dogan, P; Varal, IG; Gorukmez, O; Akkurt, MO; Akdag, A (2019-06-01). "Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene". Balkan Journal of Medical Genetics. 22 (1). Walter de Gruyter GmbH: 89–94. doi:10.2478/bjmg-2019-0001. ISSN 1311-0160. PMC 6714336. PMID 31523626.
- ^ a b "Achondrogenesis: MedlinePlus Genetics". MedlinePlus. 2015-03-01. Retrieved 2024-02-26.
Further reading
[edit]- Maheshwari, Saurabh; Ingole, Dilip; Chatterjee, Samar; Rajesh, Uddandam; Anand, Varun (2021). "A case report of achondrogenesis type II (Langer-Saldino achondrogenesis)". Egyptian Journal of Radiology and Nuclear Medicine. 52 (1). doi:10.1186/s43055-021-00479-0. ISSN 2090-4762.
- Kobayashi, Yukari; Ito, Yuki; Taniguchi, Kosuke; Harada, Kana; Yamamura, Michihiro; Sato, Taisuke; Takahashi, Ken; Kawame, Hiroshi; Hata, Kenichiro; Samura, Osamu; Okamoto, Aikou (2022-11-15). "Novel missense COL2A1 variant in a fetus with achondrogenesis type II". Human Genome Variation. 9 (1). Springer Science and Business Media LLC: 40. doi:10.1038/s41439-022-00218-5. ISSN 2054-345X. PMC 9663423. PMID 36376277.