Waardenburg`s syndrome is a rare hereditary disease, which is characterized by dystopia canthorum, hypochromic heterochromic iridum, sensorineural deafness,high and broad nasal bridge, white forelock and premature graying. We present a case of 27 year old woman with Waardenburg`s syndrome. She has characteristic features such as dystopia canthorum, broad and high nasal bridge, confluent eyebrow(synophrys), hypochromic heterochromic iridum, depigmented fundus and premature graying.
Adult ; Female ; Genetic Diseases, Inborn ; Humans

Background: \u03b2-thalassemia is a hereditary disease caused by disorder in \u03b2-globin chain synthesis process. In this research, multiplex-PCR was used in combination with blood chemistry assays and clinical symptoms to detect \u03b2-globin mutations. Objectives: (1) to identify the \u03b2-thalassemia mutation spectrum in the North of Vietnam; (2) to determine the relation between biochemistry values and types of mutations. Subject and methods: Blood samples collected from 60 pediatric patients were used in screening assays (hemoglobin counting, red blood cell counting, hematocrit\ufffd? and multiplex-PCR to detect 6 point mutations with high prevalence in the region. Results: \r\n', u'(1) Of 60 blood samples collected from pediatric patients, 30 (50%) had mutation in codon 17 (A\u2192T), 6 (10%) had a frameshift mutation in codons 41/42 and 4 (6%) had both types of these mutations; (2) The average onset time in patients with FS 41/42 mutation was earlier than that of patients with codon 17 (A\u2192T) mutation, whereas transfusion interval did not differ significantly among these patients; (3) Mean corpuscular volume (MCV) was lower in patients with homozygous mutations (\u03b2o) (average 64.8) than in those with heterozygous mutations (\u03b2+) (average 72.7). Conclusions: (1) multiplex-PCR is an effective technique in identifying the mutation spectrum of \u03b2-globin gene in the North of Vietnam; (2) Biochemistry assays should be associated with molecular techniques in diagnose of \u03b2-thalassemia\r\n', u'\r\n', u'\r\n', u'
beta-Thalassemia ; Thalassemia ; Genetic Diseases ; Inborn ; Mutation

Child ; Genetic Diseases, Inborn ; genetics ; Humans

There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the biological process of the disease have led to optimal health outcomes in a subset of patients with PGDs, where treatment is available. In the past 3 decades, there has been rapid advancement in the development of novel therapies, including gene therapy, for many PGDs. The therapeutic success of treatment relies heavily on knowledge of the genetic basis and the disease mechanism. Specifically, gene therapy has been shown to be effective in various clinical trials, and indeed, these trials have led to regulatory approvals, paving the way for gene therapies for other types of PGDs. In this review, we provide an overview of the treatment strategies and focus on some of the recent advancements in therapeutics for PGDs.
Child ; Humans ; Genetic Diseases, Inborn/therapy* ; Genetic Therapy

Computational Biology ; Genetic Diseases, Inborn ; Humans ; Mouth Diseases ; genetics

Genetic Diseases, Inborn ; diagnosis ; Humans ; Mouth Diseases ; diagnosis ; genetics

Genetic Diseases, Inborn ; Humans ; Liver Cirrhosis ; Polycystic Kidney Diseases

SAL-like 4 (SALL4) locating at chromosome 20q13.13-13.2 encodes a newly identified transcription factor containing 8 zinc finger motif. Recent studies have revealed the important role of SALL4 gene in the regulation of early embryonic development, organogenesis, and proliferation and pluripotency of embryonic stem cells. The heterozygous mutations of SALL4 in different loci, causing nonsense mutation or frameshift mutation, and resulting in genesis of premature terminal codon, are correlated with autosomal dominant hereditary diseases such as Okihiro syndrome, acro-renal-ocular syndrome and IVIC syndrome. The level of SALL4 expression is increased in germ cell tumors, hepatoid gastric carcinoma, acute myeloid leukemia, B-precursor cell leukemia/lymphoma and myelodysplastic syndrome. This review focuses on the structure and function of SALL4 gene as well as its relevance to related diseases.
Genetic Diseases, Inborn ; genetics ; Humans ; Mutation ; Transcription Factors ; genetics

A case of hereditary benign telangiectasia without family history was reported. A 39-year-old woman presented with small and tiny telangiectases on the face, neck, upper trunk and forearms at birth. The numbers and sizes of the lesions increased gradually and she had no hemorrhagic diathesis and systemic diseases. No similar patients were found in her family. Upon physical examination, telangiectases were found on the face, neck, upper trunk and forearms; and a telangiectatic erythema was found on the right forearm 25 mm × 40 mm in size. Histopathology examination showed a normal epidermis and dilation of the capillaries at upper dermis. Hereditary benign telangiectasia without family history was diagnosed.
Adult ; China ; Female ; Genetic Diseases, Inborn ; diagnosis ; Humans ; Telangiectasis ; diagnosis

Currarino syndrome is a hereditary disease characterized by the triad of sacral agenesis, anorectal malformation, and presacral mass. Most patients are diagnosed in childhood, and this condition rarely manifests in adulthood. In women, gynecological malformations associated with Currarino syndrome have been reported, such as bicornuate uterus, rectovaginal fistula, and septate uterus. We present a rare case of a 29-year-old woman with a suspected pelvic mass who was diagnosed with Currarino syndrome.
Adult ; Female ; Genetic Diseases, Inborn ; Humans ; Rectovaginal Fistula ; Uterus