Page 13 - 2021 Winter CMTA Report

GENETIC TESTING peripheral nerve axon or the novo mutations would not be
(continued from page 11) myelin sheath. More than 100 identified by traditional PGT-M
genes have been identified in techniques.
affected by a great number of CMT, with each gene linked to Advances in genetic and
genetically inherited disorders one or more types of the disease. reproductive technologies can
that demonstrate a specific In addition, multiple genes can expand reproductive options for
pattern of inheritance. Some be linked to one type of CMT. many who, until recently, had
disorders, however, are consid- Moreover, the inheritance pat- very few. They can provide
ered multifactorial. There may tern can be autosomal dominant, knowledge to aid in planning
be a genetic component, but X-linked or autosomal recessive. and preparedness for pregnan-
other factors are required to It can also appear as a de novo cies affected by heritable medical
develop a specific disease. For mutation. disorders or chromosomal
example, some women may have While these variations pre- abnormalities and ultimately
a BRCA mutation. While this sent a challenge to probe expand our approach to the diag-
confers a significantly increased development for PGT-M, it is nosis and treatment of complex
risk of breast and ovarian can- still an option for many. Perhaps diseases.
cer, not everyone who carries as many as 50-60 percent of For more information, a
the mutation will develop the cases involve the duplication of helpful start can be found at
disease. Some genetic disorders the PMP22 gene on chromosome ReproductiveFacts.org. k
carry a highly variable inheri- 17. Traditional PGT-M can be
Christine Murray, the newest member
tance pattern. considered in such cases. Some
of the CMTA Advisory Board, is a
CMT is in this category. cases can involve the deletion of board-certified reproductive endocri-
CMT is caused by mutations in this gene or some other variant; nologist and infertility (REI) specialist.
She specializes in in vitro fertilization
genes that support or produce these cases typically require
and polycystic ovary syndrome with a
proteins involved in the struc- phasing-clinical testing of the special interest in preimplantation
ture and function of either the patient’s parents. Presently, de genetic testing of embryos.

WINTER 2021 THE CMTA REPORT 13