Individuals with a homozygous deletion of the glutathione S-transferase theta 1 (GSTT1) gene lack GSTT1 enzymatic detoxification of environmental carcinogens by conjugation with glutathione. The GSTT1 gene deletion has been associated with carcinogen-induced chromosomal changes in lymphocytes, and some but not all epidemiological evidence has suggested that the GSTT1 gene deletion may increase ...

Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. S...

The vast majority of severe (Type 0) spinal muscular atrophy (SMA) cases are caused by homozygous deletions survival motor neuron 1 ( SMN1 ). We report a case in which the patient has two copies but clinically presents as Type 0 SMA. is an African American male carrying maternally inherited missense variant (c.796T>C) cis -oriented duplication on one chromosome and deletion other (genoty...

Objective: The aim of this retrospective cohort study is to evaluate the carrier frequency spinal muscular atrophy (SMA) among pregnant women and their partners admitted our clinic for routine pregnancy follow-up. Methods: included who were informed about SMA disease screening at first trimester accepted undergo SMA. Carrier was carried out using DNA extracted from peripheral blood with a quant...