Jornal de Síndromes Genéticas e Terapia Gênica
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Heterozygote PACS1 Mutation in Schuurs-Hoeijmakers Syndrome

Dilber B

PACS1 gene is found on the long arm of the 11th chromosome
(11q13.1-13.2). Mutations showing autosomal dominant
inheritance in this gene cause Schuurs-Hoeijmakers syndrome.
For the first time, Schuurs-Hoeijmakers et al. diagnosed PACS1
with de novo mutation because of similar findings in two boys
who had no cognation. These boys had findings such as similar
typical facial appearance, intellectual and motor retardation, and
cryptorchidism. De novo c.607C>T mutation was detected in
both boys, and clinical pictures were overlapped. Later, three
further patients with similar findings were described by Gadzicki
et al. in 2014, PACS1 associated symptoms were introduced with
their findings. Reported de novo missense PACS1 (c.
608G>A,p.Arg203Gln) mutation. In our case, heterozygous
missense mutation c.607C>T was detected in PACS1 gene and
the patient was diagnosed with whole exome sequencing (WES).
We underlined that this chromosomal abnormality presents with
typical facial appearance, retardation in speech skill, and motor
skills. Furthermore, we stated that this condition may be found
in a wide spectrum and accompanied by several anomalies.