Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants

• Published in: Journal of Pediatric Endocrinology & Metabolism Vol. 34; no. 9; pp. 1115 - 1121
• Main Authors: Kılıç, Esra, Çavdarlı, Büşranur, Büyükyılmaz, Gönül, Kılıç, Mustafa
• Format: Journal Article
• Language: English
• Published: Germany De Gruyter 27.09.2021; Walter de Gruyter GmbH
• Subjects: acromesomelic dysplasia-type Maroteaux; Adolescent; Bone diseases; Bone Diseases, Developmental - genetics; Bone Diseases, Developmental - pathology; Child; Child, Preschool; Female; Follow-Up Studies; Genetic Testing; growth; Growth disorders; Heterozygote; Homozygote; Humans; Infant; Male; Mutation; Pedigree; Phenotype; Prognosis; Receptors, Atrial Natriuretic Factor - genetics; short stature; skeletal disorder; short stature; acromesomelic dysplasia-type Maroteaux; growth; skeletal disorder; NPR2
• ISSN: 0334-018X; 2191-0251
• DOI: 10.1515/jpem-2021-0055

Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of , which encodes a cartilage regulator C-type natriuretic peptide receptor B. variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia. We performed detailed clinical and radiological evaluation and sequence analysis for . Herein, we report nine patients from eight families with two novel pathogenic variants. This study describes typical clinical phenotypes of Maroteaux type acromesomelic dysplasia, and enriches the variant spectrum of by reporting one nonsense and one missense novel variant. We emphasize the importance of detailed clinical evaluation before genetic testing in diagnosing rare skeletal disorders.