Balkan Journal of Medical Genetics

ACHONDROGENESIS TYPE 2 IN A NEWBORN WITH A NOVEL MUTATION ON THE COL2A1 GENE
Dogan P1,*, Varal IG1, Gorukmez O2, Akkurt MO3, Akdag A1
*Corresponding Author: Pelin Dogan, M.D., University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital, Department of Pediatrics, Division of Neonatology, Yıldırım, Bursa, Turkey. Tel.: +90-505-316-4268. Fax: +90-224-294-4000. E-mail: pelin_akbas@yahoo.com
page: 89

INTRODUCTION

Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns [1]. It is clinically characterized by short-limbed dwarfism and the affected patients are often lost in utero or shortly after birth. Achondrogenesis is classified as Achon-rogenesis type 1A (Houston-Harris type or ACG1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings [2]. Achondrogenesis type 2 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 be accompanied by polyhydramnios and hydrops. Typical radiological findings of ACG2 include short long bones, short ribs without fractures, decreased ossification of the pelvis and spine, and normal mineralization in the iliac and calvarial bones [3]. The COL2A1 gene encodes the cartilage-specific collagen, and mutations in this gene can cause ACG2 and various skeletal dysplasias. Achondrogenesis type 2 is the most severe and lethal form of the disorder [4]. This study contributes to the literature by presenting a case of ACG2 carrying a heterozygous missense variation (c.2546G>A, p.Gly849Asp in COL2A1), a new mutation that has not previously been described in the literature.

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