China Journal of Leprosy and Skin Diseases ›› 2025, Vol. 41 ›› Issue (4): 257-261.doi: 10.12144/zgmfskin202504257

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A novel mutation of GNAS in a child with Albright hereditary osteodystrophy

GUAN Yu1, FU Qingxian2, WANG Rong3   

  1. 1 Department of Dermatology，Fujian Children's Hospital（Fujian Branch of Shanghai Children's Medical Center），College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou 350000, China; 2 Department of Endocrinology and Inborn Metabolic Diseases, Fujian Children's Hospital（Fujian Branch of Shanghai Children's Medical Center），College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou 350000, China; 3 Department of Pathology, Fujian Children's Hospital（Fujian Branch of Shanghai Children's Medical Center）, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou 350000, China
  • Online:2025-04-15 Published:2025-04-08

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Abstract: This paper reports the clinical features and genetic testing results of a case of Albright hereditary osteodystrophy (AHO). The patient is an 8-month-old male who presented with skin ossification as the initial symptom and was also characterized by early-onset obesity, round face, short neck, and short hands. Peripheral blood DNA of the children and their parents was extracted for whole-exome sequencing and Sanger sequencing validation, the result revealed a heterozygous variant (c.348dup) in exon 5 of the GNAS gene in the patient, which was not found in his parents.

Key words: cutaneous osteoma, GNAS gene, Albright hereditary osteodystrophy