中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (4): 257-261.doi: 10.12144/zgmfskin202504257

• 论著 • 上一篇    下一篇

Albright遗传性骨营养不良症一例报道并基因检测

关羽1,付青贤2,王荣3   

  1. 1福建省儿童医院皮肤科（上海儿童医学中心福建医院），福建医科大学妇儿临床医学院 福建医科大学，福建福州，350000；2福建省儿童医院内分泌遗传代谢科（上海儿童医学中心福建医院），福建医科大学妇儿临床医学院，福建医科大学，福建福州，350000；3福建省儿童医院病理科（上海儿童医学中心福建医院），福建医科大学妇儿临床医学院，福建医科大学，福建福州，350000
  • 出版日期:2025-04-15 发布日期:2025-04-08

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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摘要： 本文报道一例Albright遗传性骨营养不良症（AHO）临床特点及基因检测结果。患儿，男，8月龄，以皮肤骨瘤为首发表现，伴有早发性肥胖、圆脸、短颈、双手短等临床特征。提取患儿及父母外周血DNA进行全基因组外显子测序和Sanger测序，发现患儿GNAS基因外显子5存在杂合变异（c.348dup），其父母未发现该变异。

关键词: 皮肤骨瘤, GNAS基因, Albright 遗传性骨营养不良症

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