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Advanced Neurology Genetics of neurodevelopmental disorders in Mexico

with congenital heart diseases, marrow failure, and 11 families. Notably, 15 out of the 54 individuals tested
immunodeficiency were conducted and yielded negative (28%) carry mutations in the alleles associated with
results. In this patient, only VUSs in FANCF and ALMS1 pseudodeficiency of galactosylceramidase (GALC).
were identified, which do not account for the observed Figures 4 and 5 summarize the results of patients and
clinical manifestations. relatives.
From the relatives studied, five women were identified 4. Discussion
as carriers of Duchenne muscular dystrophy, three with
BTD, and two with variants in rabconnectin-3. The study Although NGS was the primary genomic technique used
also allowed the identification of six de novo mutations. in our patients, two of them (patients 1 and 5 in Table 1)
The family trees of the families included in segregation were diagnosed with a genomic disorder due to deletions
studies encompass 30 relatives, featuring their mutation or or duplications of some genes in the same chromosomal
variant status (Figures 1-3). region. One patient (patient 1) has a possible duplication
of 15q11.2 due to the presence of four copy numbers of
A diagnosis was confirmed in 58% of the cases studied three entire gene sequences such as UBE3A, GABRB3,
using personalized genetic panels with NGS techniques. and MAGEL2, making Angelman syndrome the main
Family counseling was provided to 30 relatives from diagnosis, which matches clinical complaints such as

Figure 1. Family trees of relatives who completed the molecular studies (families 2, 3, and 4)

Figure 2. Family trees of relatives who completed the molecular studies (families 7, 8, and 9)

Volume 3 Issue 2 (2024) 8 doi: 10.36922/an.3359