Case Report: Novel compound heterozygous variants cause achromatopsia in three patients from a family.

This study report a novel missense variant in the gene identified by targeted gene panel sequencing approach in a Chinese family with achromatopsia. The proband, a 24-year-old female, with normal intelligence, motor development and speech abilities exhibited nystagmus, amblyopia, photophobia, and indistinguishable colors. In addition, the two sisters of the proband had the same clinical symptoms, which means that three patients from a family with a monochromasia clinical diagnosis.

[Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening].

Objective: To investigate the feasibility of noninvasive prenatal genetic testing for detecting chromosome aneuploid in pregnant women aged less than 35 years with positive results in serum screening.

Methods: We analyzed the plasma cellfree fetal DNA in a total of 6804 pregnant women aged less than 35 years with singleton pregnancy from Foshan maternal and child health care hospital, whose weeks of gestation ranged from 12 to 24 weeks with ages on the expected date of confinement of 21-34 years. According to the results of serum screening, the women were divided to high-risk group and critical-risk group.

[Response of understory species distribution of Robinia pseudoacacia plantation to environmental factors in loess hilly region, China.].

We explored the distribution characteristics and influencing factors of understory species in Robinia pseudoacacia plantation in Wuqi, Ansai, Mizhi, Yichuan and other places, in combination with niche breadth, soil, altitude and other environmental factors. We analyzed the response mechanism of species distribution to environmental factor to provide a scientific basis for the mana-gement of R. pseudoacacia plantation in loess hilly region.