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Inicio Medicina Clínica (English Edition) Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518*) in a Chi...
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Vol. 157. Issue 11.
Pages 537-541 (December 2021)
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Vol. 157. Issue 11.
Pages 537-541 (December 2021)
Clinical report
Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518*) in a Chinese family with hereditary hemorrhagic telangiectasia
Identificación de una nueva mutación del gen ENG (c.1550_1551dupTG, p.S518 *) en una familia china con telangiectasia hemorrágica hereditaria
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Fang Chena,1, Mengxue Yangb,1, Zhong Wenb,
Corresponding author
wenzhong60@163.com

Corresponding authors.
, Chaosheng Yua,
Corresponding author
ycs_9982@163.com

Corresponding authors.
a Department of Otorhinolaryngology-Head and Neck Surgery, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China
b Department of Otorhinolaryngology-Head and Neck Surgery, Zhujiang Hospital, Southern Medical University, Guangzhou, China
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Abstract
Background

It is very important to diagnose Hereditary hemorrhagic telangiectasia (HHT) early through appropriate screening and preventive treatment of a patient and their affected family members. This study aimed to report on a case of a Chinese family with heterozygous ENG-related HHT.

Methods

Gene mutations were identified by whole-exome sequencing and physical examination were conducted to reveal the clinical symptoms.

Results

Physical examination revealed symptomatic anaemia, coagulation system disorder and multiple red or pink spots reflecting telangiectases on the eyelids, tongue, palate and nasal cavity. Nine other affected relatives were identified in examining his family tree, among which three family members had died due to nose bleeding and one member presented symptomatic anaemia requiring blood transfusions. A novel heterozygous variation c.1550_1551dupTG (p.S518*) in ENG gene was identified.

Conclusions

The patient and his daughter were confirmed to have heterozygous ENG-related HHT and the novel ENG heterozygous variant may play an important role on the severe symptoms of HHT. However, further case follow-up and functional studies should be conducted to confirm these mechanismal hypotheses.

Keywords:
ENG
Hereditary hemorrhagic telangiectasia
Epistaxis
Missense mutation
Osler-Weber-Rendu disease
Resumen
Antecedente

El diagnóstico temprano de telangiectasia hemorrágica hereditaria (HHT) es muy relevante tanto para el propio paciente como para sus familiares afectados ya que permite un tratamiento preventivo. El objetivo de este estudio es presentar una familia china con HHT heterocigótica relacionada con una mutación en el gen ENG.

Métodos

Se llevó a cabo un estudio clínico y se identificaron mutaciones genéticas mediante secuenciación del exoma completo.

Resultados

Se detectaron anemia sintomática, trastornos de la coagulación y múltiples telangiectasias en párpados, lengua, paladar y cavidad nasal. Al examinar el árbol genealógico, se detectaron otros nueve familiares afectados, tres de los cuales habían fallecido por hemorragia nasal y uno presentaba anemia sintomática que había requerido transfusiones de sangre. Se identificó una nueva variación heterocigótica c.1550_1551dupTG (p.S518 *) en el gen ENG.

Conclusiones

Se confirmó que el paciente y su hija tenían HHT heterocigótica relacionada con el gen ENG. La nueva variante heterocigótica ENG puede desempeñar un papel relevante en la gravedad de los síntomas de la HHT, aunque se precisan nuevos estudios funcionales y de seguimiento de casos para confirmar dicha hipótesis.

Palabras clave:
ENG
Telangiectasia hemorrágica hereditaria
Epistaxis
Mutación sin sentido
Enfermedad de Osler-Weber-Rendu

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