Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring delayed intellectual development.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents.@*RESULTS@#No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8.@*CONCLUSION@#The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.

Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child featuring severe mental retardation.@*METHODS@#The child was subjected to target region capture and next generation sequencing. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a hemizygous c.1A>G (pMet1?) variation of the ARX gene, for which his mother was a heterozygous carrier. The mutation was unreported previously and was predicted to be "probably pathogenic" by bioinformatic analysis.@*CONCLUSION@#The c.1A>G (pMet1?) variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.

Analysis on effects of the neonatal hearing screening combined with deafness genes screening in Huzhou / 中国耳鼻咽喉头颈外科

OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.

Clinical study on the plasma melatonin level in hypoxie-ischemic encephalopathy neonates / 中国小儿急救医学

Objective To explore the changes of plasma melatonin(MT)level in hypoxic-ischemic encephalopathy(HIE)neonates,and elucidate the function of rnelatonin in the pathogenesis and the prognosis of HIE.Methods Fourty HIE neonates were divided into 2 groups,20 mild HIE neonates and 20 moderate or severe HIE ones.The femoral vein blood were collected in 48 h and on 7 d after birth in mild HIE group,and in 48 h,on 7 d and(14±4)d after birth in moderate on severe HIE group.Twenty normal term infants served as control group.The level of plasma MT was determined with enzyme-labeled immunosorbent assay.Results Compared with control group[(8.003±1.840)ng/L],The MT level in mild HIE group in 48 h after birth[(13.311±4.025)ng/L]was higher(P＜0.01),but there was no difference on 7 d[(6.605±1.269)ng/L](P＞0.05);The MT level in moderate or severe HIE group in 48 h after birth[(5.487±1.997)ng/L]was lower(P＜0.01),but it was higher on 7 d[(16.201±5.594)ng/L](P＜0.01),there was no difference on(14±4)d[(6.799±1.765)ng/L](P＞0.05).Conclusion MT may have protective action on HIE.The prognosis of HIE with rising MT level in 48 h after birth is better than that with lower MT level.