Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy

Abstract

We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the POMC gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38-45 of the DMD (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del).

Keywords: DMD; OBAIRH; POMC; double trouble.

Figure 1

The proband’s family tree. The arrow points to patient D. Plus signs indicate the examined and genotyped family members; dots—carriers of the c. –71+1G>A variant in the POMC gene; black colour—patients with OBAIRH. =: a sequence was found unchanged, 0: absence of the second X chromosome (hemizygote).