Ana Berta Sousa

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Publisher: Wiley

Date: 25-02-2015

DOI: 10.1002/MGG3.133

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders

Publisher: Wiley

Date: 20-01-2021

DOI: 10.1111/CGE.13922

Abstract: Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development.

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Publisher: Elsevier BV

Date: 05-2020

DOI: 10.1038/S41436-019-0747-Z

Faculdade De Medicina Da Universidade De Lisboa

Location: Portugal

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Hospital Da Luz Lisboa

Location: Portugal

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Hospital Santa Maria / Centro Hospitalar Universitário Lisboa Norte, EPE

Location: Portugal

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Universidade Nova De Lisboa

Location: Portugal

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Universitaet Zu Koeln

Location: Germany

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