Arg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report

Abstract

Type A insulin resistance syndrome (TAIRS) is a rare subtype of congenital insulin resistance (IR), which is characterized by specific clinical manifestations without clear diagnostic criteria and is easily misdiagnosed or overlooked. Herein we present a case of TAIRS with acanthosis nigricans (AN), severe IR, polycystic ovaries, hyperandrogenism and its consequence such as menstrual disturbances, acne and hirsutism. A heterozygous mutation, p.Arg1201Gln, in the insulin receptor (INSR) was detected. This mutation in the tyrosine kinase domain has been described before and shown to impair tyrosine kinase activity and is responsible for IR.

摘要

A型胰岛素抵抗综合征(TAIRS)是先天性胰岛素抵抗(IR)的一种罕见亚型, 临床表现特殊、诊断标准不明确并容易被误诊或忽视。在此, 我们报告一例TAIRS合并黑棘皮病(AN)、严重的IR、多囊卵巢、高雄激素血症及继发疾病, 如月经紊乱、痤疮和多毛症。在胰岛素受体(INSR) 中检测到p.Arg1201Gln的杂合突变。酪氨酸激酶结构域中的这种突变以前已经被报道过, 并已经证明这种突变会削弱酪氨酸激酶的活性, 以及与IR有关。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Type A insulin resistance
• INSR
• mutation
• tyrosine kinase activity

Disclosure statement

The authors declare that they have no competing interests.

Ethical approval

No ethical approval was obtained but written informed consent was obtained from the Proband’s parents for publication of this case report.