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Severe congenital neutropenia (SCN) is a congenital condition in which granulocytes mature abnormally owing to a variety of genetic defects, resulting in immunodeficiency. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 60% of the genetic causes. Here, we present three patients from different Vietnamese families who were susceptible to infectious diseases such as lung abscesses, sepsis, cellulitis, and septicemia. Moreover, their hematological and immunological parameters were below the reference range. Whole exome sequencing (WES) analysis was performed in all cases harboring three previously described disease-causing mutations, including p.Arg103Pro, p.Trp156Arg, and p.Arg81Pro in the ELANE gene (NM_001972.4). These mutations were confirmed by the Sanger sequencing method in the patients, helping to identify de novo mutations in all cases. Our data increase more evidence for the function of ELANE in SCN, as well as raise awareness of this rare disease in the context of frequent infections in Vietnam.

Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic ERCC8 (CS-A) or ERCC6 (CS-B) variants. In this study we describe siblings suffering from classical Cockayne syndrome but without photosensitivity, which delayed a clinical diagnosis for 16 years. By whole-exome sequencing we identified the two novel compound heterozygous ERCC8 variants c.370_371del (p.L124Efs*15) and c.484G>C (p.G162R). The causality of the ERCC8 variants, of which one results in a frameshift and the other affects the WD3 domain, was tested and confirmed by a rescue experiment investigating DNA repair in H2O2 treated patient fibroblasts. Structural modeling of the p.G162R variant indicates effects on protein-protein interaction. This case shows the importance to test for ERCC6 and ERCC8 variants even if patients do not present with a complete CS phenotype.

Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by theOne-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited. DNA samples were extracted from peripheral blood. Mutations in theApproximately 98% of the clinically diagnosed WD patients carriedThe mutational spectrum and hotspots of

Cockayne syndrome (CS) is a rare progeroid disorder characterized by growth failure, microcephaly, photosensitivity, and premature aging, mainly arising from biallelic

Background Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. The disease has an onset in a childhood and result in a significant neurological impairment or require lifelong treatment. Another serious consequence of the disease is the development of liver damage and acute liver failure leading to liver transplant. The disorder is caused by mutations in the ATP7B gene, encoding a P-type copper transporting ATPase. Case presentation We performed genetic analysis of three unrelated patients from three different Vietnamese families. These patients had clinical features such as numbness of hands and feet, vomiting, insomnia, palsy, liver failure and Kayser–Fleischer (K–F) rings and were diagnosed with Wilson disease in the Human Genetics Department, Vietnam National Children’s Hospital. The entire coding region and adjacent splice sites of ATP7B gene were amplified and sequenced by Sanger method. Sequencing data were analyzed and compared with the ATP7B gene sequence published in Ensembl (ENSG00000123191) by using BioEdit software to detect mutations. Conclusions In this study, five mutations in the ATP7B gene were found. Among of these, three mutations were novel: c.750_751insG (p.His251Alafs*19) in exon 2, c.2604delC (p.Pro868Profs*5) in exon 11, and c.3077 T > A (p.Phe1026Tyr) in exon 14. Our results of the mutations associated with Wilson disease might facilitate the development of effective treatment plans. Electronic supplementary material The online version of this article (10.1186/s12881-018-0619-4) contains supplementary material, which is available to authorized users.

Androgen insensitivity syndrome (AIS) is the most common specific cause of 46,XY disorder in sex development. The androgen signaling pathway is complex but so far, the only gene linked with AIS is the androgen receptor (AR). Mutations in the AR are found in most subjects with complete AIS but in partial AIS, the rate has varied 28–73%, depending on the case selection. More than over 800 entries of mutations causing AIS, representing over 500 different AR mutations from more than 850 patients with AIS have been reported. We aim to describe clinical manifestations and to identify mutation of AR in Vietnamese patients with AIS. This case series study included 12 patients from 9 unrelated families with AIS. The gonadal position and external genitalia were evaluated clinicaly and using ultrasound. The mutation analysis of AR was performed using PCR and direct sequencing. The age of diagnosis was 1 to 83 years old. 8/12 cases were complete androgen insensitivity syndrome (CAIS) (female external genitalia) and 4 cases were predominantly female partial AIS phenotype. Four cases had two labial testes, six cases had inguinal testes and 2 cases had abdominal testes. Five different mutations of AR were identified from 7 cases of 3 unrelated families including three novel ones. The novel missense mutation p.L701F (c.2103G>T) was identified in a patient of 83 year of age. The novel missense mutation p.L705F (c.2113C>T) was identified in two sibs. The novel mutation p. W752S (c. 2256 G>T) was identified in a child with CAIS phenotype and had family history. The reported missense mutation p.V747M was identified in two sibs. The reported mutation p.V867M (c.2599 G>A) was identified in a child with female phenotype. Our study identified three novel and two reported mutation in the AR gene that may provide us new insights into the molecular mechanisms of AIS. The expanded database of these mutations should benefit patients in the diagnosis and treatment of this syndrome.

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder due the lack of expression of paternally inherited imprinted genes on chromosome 15q11-13. Clinical presentation includes hypotonia, hyperphagia, obesity, hypogonadism, learning difficulty. We studied clinical and laboratory of patient diagnosed and treated in National Hospital of Pediatrics, Hanoi (NHP). This is descriptive study. We collected 26 patients diagnosed of PWS by FISH in NHP from December 2007 to April 2012 were recruited in the study. Male/female ratio was 6/1. Patients diagnosed before 5 years occupied 53.5%. 85.7% of patients were found to have hypotonia at age of 4.92.0 months. 86.4% of patients had hypherphagia at age of 20.711.1 months. In patients aged of > 2 years, height SDS was +8.74.7 SD compared to gender and age. The figure of BMI was +10.33 SD. 4/7 of patients aged ≥ 6 years had micropenis. 91.7% of patients had cryptorchidism. 4/24 of patients (14.3%) had type 2 diabetes mellitus. Based on clinical presentation, more PWS patients could be diagnosed and treated early.