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Home > NewsMedia Releases

Genetic cause of rare disease unveiled

2017/12/18 16:40:19 Shenzhen Daily

Keyword:

DOCTORS at the University of Hong Kong–Shenzhen Hospital (HKU-SZH) have announced that they have identified the genetic cause of ALPS-like diseases. ALPS is a rare genetic disorder of lymphocyte homeostasis due to impaired apoptosis, according to a press release from the hospital yesterday.



A 10-year-old girl, Yang Liu, and her 5-year-old brother, Yang Le, have been hospitalized frequently since being born. Yang Liu, who was diagnosed with autoimmune hemolytic anemia, has suffered multiple episodes of pneumonia caused by a spectrum of pathogens. Her brother got a viral infection soon after he was born in 2012, which almost took his life.

Their parents, who had lived in Shenzhen since 2000, returned to their hometown in Wuhan in 2012 to seek medical treatment for the siblings. The mother, surnamed Liu, said she was worried about her children as they would get sick every now and then and the doctors couldn’t find the cause of their illness.

Liu and her husband jointly run a business in Wuhan, and they have spent millions of yuan on the siblings’ medical bills over the past decade.

They decided to move back to Shenzhen in late 2013 after they heard about the opening of HKU-SZH, where patients can receive treatment from Hong Kong doctors.

Liu brought her children to the hospital in January 2014. The siblings were then diagnosed with an ALPS-like disease, which is a rare disease with only a few hundred reported cases globally, by a team of doctors at the hospital. The medical team is led by Mao Huawei, a doctor from the hospital’s pediatric rheumatism and immunology department.

By performing whole-genome sequencing on Yang Liu and Yang Le, the doctors found that both of the siblings have the RASGRP1 mutation, which is the cause of their ALPS-like disorder. It’s the first time that the RASGRP1 mutation has been identified as the cause of an ALPS-like disease.

Mao and his team published an article about their findings in the Journal of Allergy and Clinical Immunology last month.

According to Mao and his team’s research, both of the siblings’ parents are heterozygous carriers of the RASGRP1 mutation, and the probability that their children would get an ALPS-like disease is 25 percent.

Mao’s team has been offering customized treatment for Yang Liu and her bother since the cause of their disease was identified.

Mao said the genetic diagnosis has helped doctors understand the disease’s pathogenic mechanism and provide precision treatment for the patients.

He said if Liu and her husband wanted to have another baby, the doctors could provide a prenatal diagnosis to help them avoid having another child with the genetic disease.

Shenzhen Daily

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