The first case report of a Chinese Hermansky–Pudlak syndrome patient with a novel mutation on HPS1 gene

Abstract Major histocompatibility complex (MHC) II deficiency is a rare primary immunodeficiency disorder that is characterized by the deficiency of MHC class II molecules. The disease is caused by transcription factor mutations including class II transactivator (CIITA), regulatory factor X-5 (RFX5), RFX-associated protein (RFXAP), and RFXAP-containing ankyrin repeat (RFXANK), respectively. Mutations in the RFXANK gene account for >70% of all known patients worldwide. Herein, we reported a 10-month-old boy with MHC II deficiency caused by a novel mutation in the RFXANK gene (c.337 + 1G>C). The boy was admitted to the hospital due to pneumonia and diarrhea at 4 months of age. Genetic analysis revealed a novel homozygous mutation in the RFXANK gene, which derived from the c.337 + 1G>C heterozygous mutations in the RFXANK gene of his parents. The boy died 3 months after diagnosis. More than 200 cases have been reported, and a review of the literature revealed different mutation rates of 4 transcription factors in different countries or regions. This is the first case report of MHC II deficiency from East Asia. We also describe all gene mutations that cause MHC II deficiency and the epidemiology of MHC II deficiency with gene mutations in this paper.

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First Case Report of Familial Hypercholesterolemia in an Omani Family Due to Novel Mutation in the Low-Density Lipoprotein Receptor Gene

Angiology ◽

10.1177/0003319712465171 ◽

2012 ◽

Vol 64 (4) ◽

pp. 287-292 ◽

Cited By ~ 7

Author(s):

Ali T. Al-Hinai ◽

Abdulrahim Al-Abri ◽

Humoud Al-Dhuhli ◽

Khalid Al-Waili ◽

Hilal Al-Sabti ◽

...

Keyword(s):

Case Report ◽

Familial Hypercholesterolemia ◽

Novel Mutation ◽

Receptor Gene ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Low Density ◽

Lipoprotein Receptor ◽

First Case ◽

Density Lipoprotein Receptor

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The ﬁrst case report of McLeod syndrome in an infant with a novel mutation (c.89C>A, p. Ser30X) in XK

Clinical Neurology and Neurosurgery ◽

10.1016/j.clineuro.2019.105421 ◽

2019 ◽

Vol 184 ◽

pp. 105421

Author(s):

Pei-Chao Tian ◽

Yue Wang ◽

Zheng Chen ◽

Dan-Dan Shi ◽

Huai-li Wang ◽

...

Keyword(s):

Case Report ◽

Novel Mutation ◽

First Case

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Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role

Journal of Electrocardiology ◽

10.1016/j.jelectrocard.2018.06.005 ◽

2018 ◽

Vol 51 (5) ◽

pp. 809-813 ◽

Cited By ~ 4

Author(s):

Giuseppe Di Stolfo ◽

Pietro Palumbo ◽

Stefano Castellana ◽

Sandra Mastroianno ◽

Tommaso Biagini ◽

...

Keyword(s):

Case Report ◽

Sudden Cardiac Death ◽

Cardiac Death ◽

Novel Mutation ◽

First Case ◽

J Wave

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Neu–Laxova's Syndrome: A Case Report of a Fetus with Novel Mutation in PHGDH Gene and a Literature Review

Journal of Pediatric Genetics ◽

10.1055/s-0041-1726038 ◽

2021 ◽

Author(s):

Ravi Kapoor ◽

Seema Thakur ◽

Aakar Kapoor ◽

Sunita Kapoor ◽

Apurva Kalra ◽

...

Keyword(s):

Case Report ◽

Intrauterine Growth Retardation ◽

Perinatal Death ◽

Novel Mutation ◽

Sequencing Analysis ◽

Intrauterine Growth ◽

First Case ◽

Next Generation Sequencing Analysis ◽

Generation Sequencing ◽

Rare Group

AbstractNeu–Laxova's syndrome (NLS) is a rare group of congenital malformations comprising intrauterine growth retardation (IUGR), central nervous system malformations, microcephaly, facial anomalies, ichthyosis, generalized edema, limb abnormalities, polyhydramnios, and perinatal death. We hereby report a fetus at 25 weeks' gestation with IUGR, facial and limb anomalies, and smooth brain detected on antenatal ultrasound and magnetic resonance imaging of fetus and confirmed by autopsy. Next-generation sequencing analysis identified a novel homozygous missense mutation in PHGDH gene. Only 35 cases of NLS with genetic etiology have been reported. This is the first case report of mutation in PHGDH from India.

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