ABSTRACT
Objective To report a pedigree with tyrosinemia type Ⅱ,and to analyze its causative mutations.Methods Clinical data were obtained from a 10-year-old male proband with tyrosinemia type Ⅱ,and analyzed retrospectively.Blood and urine samples were collected from 19 persons in 3 generations of the pedigree,and the amino acid level was detected in these samples.Genomic DNA was extracted from all of the 19 family members,and mutations in the tyrosine aminotransferase (TAT) gene were detected.Results The patient developed photophobia at 2 months after birth,and the symptom was gradually aggravated after that.At the age of 6 years,ocular pain and photophobia occurred.At the age of 8 years,linear keratotic plaques occurred on his fingertips and soles of both feet,with obvious tenderness.Ophthalmic examination showed no obvious abnormalities in corneal staining or ocular fundus.Skin examination showed multiple linear keratotic plaques on the fingers and soles of both feet.The serum tyrosine level was 825.64 μmol/L,and the level of p-hydroxyphenyllactic acid in urine was 161.4 μmol/L.Genetic testing showed 2 novel mutations,including c.236G ＞ A at position 236 in exon 2 of the TAT gene causing the substitution of glycine by glutamic acid (p.Gly79Glu),and c.1141G ＞ T at position 1141 in exon 10 of the TAT gene leading to the formation of a premature termination codon instead of glutamic acid (p.Glu381*).The proband was the only patient in the family.Some members in the patrilineal family carried the mutation c.1141G ＞ T (p.Glu381*),and some in the maternal family carried the mutation c.236G ＞ A (p.Gly79Glu).Conclusion This is the first case of tyrosinemia type Ⅱ reported in the domestic population,and 2 novel heterozygous mutations were identified in the TAT gene,which may lead to the occurrence of tyrosinemia type Ⅱ in the patient.
ABSTRACT
In order to study on the properconcentrations for patch test(PT),and the availability of PT w ith the suspected cosm etic products used by the patients,PT ofvarious cosm etic products w as per- form ed on 35 healthy subjects and 38 patients w ith non-contactderm atitis and non-eczem a by using dif- ferent concentrations of cosm etic products and their vehicles in cosm etic products.In 62 patients w ith cosm etic derm atitis PT w as done using their ow n suspected causative cosm etic products.The results show ed thatm ost products could be tested “w ith originalproducts”,w ithout dilution,such as skin care products(cream ),lipsticks,hair care products(hair cream ,hair oil,m ousse),others had to be diluted, such as hair dyes,hotoiland soap,to 2% solution,sham poos to 5% solution,perm anent-w ave solutions and perfum es to 5% or 10% in distilled w ater,nailvarnish to 5% or 10% in acetone.The totalpositive rate of PT by using suspected cosm etics w as 95.16% .Our results indicate that PT concentrations and vehicles vary w ith different products in suspected cosm etics,PT of the suspected causative cosm etic products is an im portant m eans for the diagnosis of cosm etic derm atitis.Our study provides necessary data for the further study ofChinese standard cosm etic screening series allergens for PT.