Clinical and Genetic Study of Children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation.

Objectives: The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics.

Method: In this observational cohort study, the clinical characteristics of 18 families diagnosed with pediatric PJS were collected. Genomic DNA from the peripheral blood of affected children and their family members was collected.

Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.

Trisomy 3 mosaicism in live birth is exceedingly rare. In this study, we report a 5-year-old boy with trisomy 3 mosaicism who exhibits skeletal anomalies, atypical form of ectodermal dysplasias, refractory diarrhea, and normal intelligence. Fluorescence in situ hybridization and microsatellite marker analyses confirmed the existence of trisomy 3 mosaicism and suggested that the parental origin of the additional chromosome 3 in the trisomic cells was maternal.

First report of CTNS mutations in a Chinese family with infantile cystinosis.

Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide.

Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.

The 5q14.3 deletion syndrome is a heterogeneous disorder with remarkable phenotypic diversity ranging from severe to mild manifestation. In this paper, we report on a patient with 5q14.

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p.

First report of HGD mutations in a Chinese with alkaptonuria.

Alkaptonuria (AKU) is one of the first prototypic inborn errors in metabolism and the first human disease found to be transmitted via Mendelian autosomal recessive inheritance. It is caused by HGD mutations, which leads to a deficiency in homogentisate 1,2-dioxygenase (HGD) activity. To date, several HGD mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide.

[A family of congenital fibrosis of extraocular muscles associated with juvenile canities].

Objective: To analyze the clinical manifestations of affected individuals in a family of congenital fibrosis of the extraocular muscles (CFEOM) with juvenile canities.

Methods: All affected and unaffected individuals were retrospectively analyzed in this study. The clinical features include genetic aspects, sex, age, ptosis, restriction of eye movement, aberrant innervation and surgical procedures, were evaluated.

Subchronic toxicity studies of Radix Astragali extract in rats and dogs.

Radix Astragali extract (RAE) is obtained from Astragalus membranaceus. It consists of Astragalus polysaccharide and Astragalus membranaceus saponins. In the study, we observed the subchronic toxicity of RAE in Sprague-Dawley rats and beagle dogs to evaluate the safety dosage range in clinical application.

[Exclusive gene mapping on retinitis pigmentosa with markers on chromosomes 3 in a Chinese kindred].

Objective: To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa (ADRP) in a Chinese kindred.

Methods: Sixteen normal persons and 18 RP patients in a ADRP family were recruited. Genome scan method based on fluorescence labeled (using 3 different labels: 6-FAM, HEX, and NED) microsatellite markers with multiplex PCR system was used to identify loci influencing susceptibility to ADRP.