Genetic counseling experiences at the University of Cape Town during COVID-19.

Soon after the first COVID-19 case was reported in December 2019 in Wuhan, China, South Africa announced a national lockdown in an attempt to curb the spread of the disease. Under national lockdown, businesses were closed, learning institutions moved to emergency remote teaching (ERT), and hospitals reduced their patient loads. De-escalation of clinical services at Groote Schuur and Red Cross War Memorial Children's Hospitals affected Genetic Counseling Services and resulted in a decrease in in-person and an increase in telecounseling sessions. ERT, offered by the University of Cape Town, affected the teaching of Genetic Counseling students, and other methods of training had to be found to compensate for the lack of patient contact. In this paper, we present our Genetic Counseling team's experiences of learning and clinical services during the COVID-19 pandemic in South Africa. The team met online as a group in November 2020 to discuss their experiences. The discussion was recorded and transcribed, and topics that arose during the discussion were identified. The pandemic and the accompanying lock down, which forced trainees to move back home, resulted in great uncertainty. The trainees found ERT on an online platform, including simulated cases, very helpful, but they lost the confidence to work with real patients. Telecounseling became the predominant form of service delivery and was experienced as positive when video sessions were possible. The telephone service for advanced maternal age counseling was problematic due to unreliable networks. The biggest loss for the GCs was the feeling of disconnection from peers, supervisors, and patients. The experiences highlighted positive and negative aspects as well as specific challenges faced in South Africa. Lessons learnt from the COVID-19 pandemic will be used in future to improve training of GCs and to enhance service delivery.

Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family.

Purpose: To report on a clinical and genetic investigation of a large, multigenerational South African family of mixed ancestry with autosomal dominant congenital cataracts, coloboma, and nystagmus. Methods: Ophthalmic examination was performed in 27 individuals from the same admixed South African family. DNA was sampled from either peripheral blood or buccal swabs in all 27 individuals, and whole genome sequencing was performed in six individuals. Sanger sequencing was used to validate the probable mutation in the remaining family members. Results: Twenty-seven family members with 19 affected individuals were included in the study. The predominant phenotype, with highly variable expression, was congenital cataract (14 individuals), posterior segment coloboma (17 individuals), and nystagmus (18 individuals). Other features present included high myopia, microcornea, and strabismus. An R208W mutation in PAX6 (dbSNP rs757259413; HGMD CM930572; NM_000280.3:c.622G>A; NP_000271.1:p.Arg208Trp) was identified as being the most probable pathogenic mutation. Cosegregation of the mutation with the phenotype was confirmed in all 27 family members. Conclusions: PAX6 is a highly conserved gene crucial for normal oculogenesis, and although mutations within the gene may cause an array of ocular developmental abnormalities, most are associated with aniridia and aniridia-related ocular defects. The observation that PAX6 aniridia phenotypes are largely associated with nonsense mutations and milder non-aniridia phenotypes with missense mutations suggested that there may be specific genotype-phenotype correlations for the gene. The R208W mutation in PAX6 identified in this family challenges this theory as it has previously been reported in three unrelated families and is associated with aniridia and non-aniridia phenotypes across the four families. PAX6 with its wide phenotypic associations and highly variable expression should be considered a candidate gene in the diagnostic screen for any ocular developmental abnormality.