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
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Abstract

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 ACG1A), 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 III 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.

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