OBJECTIVE: To explore the genetic basis for a sporadic case with neurofibromatosis type 1 (NF1). METHODS: Peripheral blood samples were collected from the patient, his unaffected parents and 100 healthy controls. The NF1 gene was detected by PCR and direct sequencing. RESULTS: The patient was found to carry a novel nonsense variant c.4339C>T (p.Q1447X) in exon 33 of the NF1 gene. The same variant was not found in his unaffected parents and the 100 healthy controls. CONCLUSION The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.

OBJECTIVETo detect mutations of the NF1 gene in two sporadic cases with neurofibromatosis type 1 (NF1) and explore their molecular mechanisms.

METHODSClinical data of the two patients was collected. Genomic DNA was extracted from peripheral blood samples. Specific primers were designed to exclude pseudogenes. PCR was performed to amplify all coding exons of the NF1 gene. PCR products were directly sequenced.

RESULTSTwo novel mutations of the NF1 gene (c.1019-1020delCT in exon 9 and c.7189G to A in exon 48) were respectively identified in the two patients but not among their unaffected parents or 100 healthy controls.

CONCLUSIONMutations of the NF1 gene may have predisposed to the NF1 in the two patients.

OBJECTIVETo identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.

METHODSAll coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.

RESULTSTwo novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.

CONCLUSIONThe c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.

Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Humans ; Ichthyosis Vulgaris ; ethnology ; genetics ; Intermediate Filament Proteins ; genetics ; Introns ; genetics ; Male ; Mutation, Missense ; Pedigree

Objective:To determine the clinical efficacy and safety of a fractional CO 2 laser and a 1 064 nm, Q-switched Nd∶YAG laser therapy in the treatment of xanthelasma palpebrarum. Methods:From October 2020 to October 2021, 30 patients (5 males and 25 females) with bilateralxanthelasma palpebrarum of the eyelid were enrolled in the Department of Dermatology, the First Affiliated Hospital of Xiamen University. The age ranged from 38 to 67 (51±7) years. One side was randomly treated with fractional CO 2 laser as the fractional group, and the other side was treated with Q-switch 1 064 nm Nd∶YAG laser as the Q-switch group. The treatment was given every 28 days for 4 times. Before treatment and 1 month after the last treatment, the general pictures were taken to compare the clinical effect. Skin ultrasound was used to measure the difference of tumor thickness before and after treatment. The incidence of adverse reactions, such as local scar, hyperpigmentation or hypopigmentation after inflammation, were recorded. Results:Under general photos, there was statistically significant difference in efficacy scores between the two groups before and after treatment ( Z=-3.082, P<0.05). By comparison of tumor thickness under skin ultrasound, the difference between the two groups before and after treatment was statistically significant ( t=21.60, P<0.05; t=17.29, P<0.05); there was no statistically significant difference between the two groups before treatment ( t=0.46, P=0.650), but there was statistically significant difference between the two groups after treatment ( t=8.41, P<0.001). No serious adverse reactions occurred in both groups. Conclusions:Fractional CO 2 laser or Q-switch 1 064 nm Nd∶YAG laser can safely and effectively improve xanthelasma palpebrarum, in which the effect of fractional CO 2 laser is much better.