Genetic diagnosis of a patient with long-time misdiagnosis of epilepsy / 中华医学遗传学杂志

Objective@#To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy.@*Methods@#Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing.@*Results@#The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c. 2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents.@*Conclusion@#The recurrent frame-shifting mutation c. 2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.

Genetic diagnosis of a patient with long-time misdiagnosis of epilepsy / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic mutation of TSC1 and TSC2 genes in a patient with long-time misdiagnosis of epilepsy.@*METHODS@#Peripheral blood samples and clinical data of the patient and her 2 parents were collected. Potential mutation of TSC1 and TSC2 genes were detected by direct sequencing.@*RESULTS@#The patient had frequent episodes of epilepsy in addition with Shagreen patches for 10 years. A frame-shifting mutation c.2509_2512delAACA was detected in exon 20 of the TSC1 gene. This same mutation was not found in her unaffected parents.@*CONCLUSION@#The recurrent frame-shifting mutation c.2509_2512delAACA (p.Asn837ValfsX11) of the TSC1 gene probably underlies the disease in this patient.

Analysis of TSC gene mutations in five patients with tuberous sclerosis complex / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).</p><p><b>METHODS</b>For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.</p><p><b>RESULTS</b>For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family.</p><p><b>CONCLUSION</b>The missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.</p>

Analysis of SLC39A4 gene mutation in a patient with acrodermatitis enteropathica / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect pathogenic mutation of the SLC39A4 gene in a male patient with acrodermatitis enteropathica (AE).</p><p><b>METHODS</b>Peripheral venous blood sample and clinical data from the patient and his parents were collected. One hundred unrelated healthy individuals were recruited as controls. All coding exons and flanking exon-intron sequences of the SLC39A4 gene were analyzed by PCR and direct sequencing.</p><p><b>RESULTS</b>The results revealed that the patient and his mother have both carried a novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) in exon 6. A novel nonsense mutation c.958C to T (p.Q320X) in exon 5 was also detected in the patient and his father and grandmother. This novel mutation was not detected in the unaffected family members and 100 unrelated healthy controls.</p><p><b>CONCLUSION</b>The novel frame-shift mutation c.1110InsG (p.Gly370GlyfsX47 to TGA) derived from the mother and nonsense mutation c.958C to T (p.Q320X) of the SLC39A4 gene derived from the father may underlie the disease in the patient.</p>

Two novel mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutation of the ADAR1 gene in a Chinese family and a sporadic case affected with dyschromatosis symmetrica hereditaria(DSH).</p><p><b>METHODS</b>Clinical data and peripheral blood samples from the pedigree and the sporadic patient were collected. Following extraction of genomic DNA, all 15 exons and exon-intron flanking sequences of the ADAR1 gene were amplified by polymerase chain reaction and subjected to direct sequencing.</p><p><b>RESULTS</b>A novel frame-shift mutation c.2638delG (p.Asp880ThrfsX15) from the patients of the pedigree was detected in exon 8 of the ADAR1 gene. And a novel nonsense mutation c.2867C>A (p.Ser956X) was detected in exon 10 of the ADAR1 gene from the sporadic case. Neither mutation was identified among the unaffected family members nor 100 unrelated healthy controls.</p><p><b>CONCLUSION</b>The frame-shift mutation c.2638delG (p.Asp880ThrfsX15) and the nonsense mutation c.2867C>A (p.Ser956X) in the ADAR1 gene probably underlie the DSH in our patients.</p>

Analysis of TSC gene mutation in a patient with tuberous sclerosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify pathogenic mutation of the TSC1 and TSC2 genes in a patient with tuberous sclerosis.</p><p><b>METHODS</b>Peripheral venous blood samples and clinical data of a pregnant woman with tuberous sclerosis and 4 family members (parents, uncle and husband) were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing.</p><p><b>RESULTS</b>The patient has presented facial angiofibroma and prefrons fibrous plaque for 20 years, and lumbar connective tissue nevus for 10 years. She also had mental retardation but no epilepsy. A novel frame-shift mutation c.4258-4261delTCAG was detected in exon 34 of the TSC2 gene, which had led to a premature stop codon TAG after the 55th amino acids. The same mutation was not found in the unaffected family members and 100 unrelated healthy controls.</p><p><b>CONCLUSION</b>The novel frame-shifting mutation c.4258-4261delTCAG (p.Ser1420GlyfsX55) in the TSC2 gene may be responsible for the disease in the patient.</p>

A novel mutation in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome / 中华皮肤科杂志

Objective To detect mutations in the STK-11 gene in a pedigree with Peutz-Jeghers syndrome (PJS).Methods Blood samples were collected from a 19-year-old male patient with PJS and his unaffected mother,as well as from 100 unrelated healthy human controls.PCR was performed to amplify all the exons of the STK-11 gene followed by sequencing.Results A novel heterozygous missense mutation (G-to-T transition) was identified at position 1251 in the exon 9 of the STK-11 gene in the patient,but not in his mother or the unrelated healthy human controls.Conclusions The missense mutation A417S,which may affect gene transcription and translation,is a specific novel mutation of STK-11 gene.