Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene

• Published in: Balkan journal of medical genetics Vol. 22; no. 1; pp. 89 - 94
• Main Authors: Dogan, P, Varal, IG, Gorukmez, O, Akkurt, MO, Akdag, A
• Format: Journal Article
• Language: English
• Published: Sofia De Gruyter Poland 28-08-2019; Sciendo
• Subjects: Abdomen; Achondrogenesis; achondrogenesis type 2 (acg2); Bone dysplasia; Case Report; Chest; col2a1 mutation; Collagen (type II); Genetic analysis; Genetic diversity; Hypoplasia; lethal skeletal dysplasia; Mutation; Neonates; Next-generation sequencing; Skeleton
• ISSN: 1311-0160; 1311-0160; 2199-5761
• DOI: 10.2478/bjmg-2019-0001

Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level ΙΙΙ Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the COL2A1 gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546G>A, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.