Hutchinson-Gilford progeria syndrome caused by rare mutation: A case report and literature review

Bin Peng; Yuan Yuan Guo; Sheng Xiang Xiao; Song Mei Geng

Hutchinson-Gilford progeria syndrome caused by rare mutation: A case report and literature review

Bin Peng
, Yuan Yuan Guo
, Sheng Xiang Xiao
, Song Mei Geng

医学部

Xi'an Jiaotong University

科研成果: 期刊稿件 › 文献综述 › 同行评审

摘要

A case of Hutchinson-Gilford progeria syndrome (HGPS) is reported. A 2-month-old boy presented with scleroderma-like skin changes on the trunk and extremities, prominent eyes, loss of subcutaneous fat, prominent scalp veins, high-pitched voice, joint stiffness and growth retardation at 1-month old. Hair loss occurred afterward. Genetic analysis revealed an unusual mutation (c.1968+1G>A) of the human nuclear lamin A gene (LMNA). Based on clinical manifestations and genetic analysis, he was diagnosed as HGPS. This was the first HGPS patient with c.1968+1G>A mutation in China.

源语言	英语
页（从-至）	518-520
页数	3
期刊	Journal of Clinical Dermatology
卷	43
期	9
出版状态	已出版 - 5 9月 2014

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title = "Hutchinson-Gilford progeria syndrome caused by rare mutation: A case report and literature review",

abstract = "A case of Hutchinson-Gilford progeria syndrome (HGPS) is reported. A 2-month-old boy presented with scleroderma-like skin changes on the trunk and extremities, prominent eyes, loss of subcutaneous fat, prominent scalp veins, high-pitched voice, joint stiffness and growth retardation at 1-month old. Hair loss occurred afterward. Genetic analysis revealed an unusual mutation (c.1968+1G>A) of the human nuclear lamin A gene (LMNA). Based on clinical manifestations and genetic analysis, he was diagnosed as HGPS. This was the first HGPS patient with c.1968+1G>A mutation in China.",

keywords = "Hutchinson-Gilford progeria syndrome",

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TY - JOUR

T1 - Hutchinson-Gilford progeria syndrome caused by rare mutation

T2 - A case report and literature review

AU - Peng, Bin

AU - Guo, Yuan Yuan

AU - Xiao, Sheng Xiang

AU - Geng, Song Mei

PY - 2014/9/5

Y1 - 2014/9/5

N2 - A case of Hutchinson-Gilford progeria syndrome (HGPS) is reported. A 2-month-old boy presented with scleroderma-like skin changes on the trunk and extremities, prominent eyes, loss of subcutaneous fat, prominent scalp veins, high-pitched voice, joint stiffness and growth retardation at 1-month old. Hair loss occurred afterward. Genetic analysis revealed an unusual mutation (c.1968+1G>A) of the human nuclear lamin A gene (LMNA). Based on clinical manifestations and genetic analysis, he was diagnosed as HGPS. This was the first HGPS patient with c.1968+1G>A mutation in China.

AB - A case of Hutchinson-Gilford progeria syndrome (HGPS) is reported. A 2-month-old boy presented with scleroderma-like skin changes on the trunk and extremities, prominent eyes, loss of subcutaneous fat, prominent scalp veins, high-pitched voice, joint stiffness and growth retardation at 1-month old. Hair loss occurred afterward. Genetic analysis revealed an unusual mutation (c.1968+1G>A) of the human nuclear lamin A gene (LMNA). Based on clinical manifestations and genetic analysis, he was diagnosed as HGPS. This was the first HGPS patient with c.1968+1G>A mutation in China.

KW - Hutchinson-Gilford progeria syndrome

UR - https://www.scopus.com/pages/publications/84914146752

M3 - 文献综述

AN - SCOPUS:84914146752

SN - 1000-4963

VL - 43

SP - 518

EP - 520

JO - Journal of Clinical Dermatology

JF - Journal of Clinical Dermatology

IS - 9

ER -

Hutchinson-Gilford progeria syndrome caused by rare mutation: A case report and literature review

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