Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology
NEUROLOGY ASIA, cilt.28, ss.775-779, 2023 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 28
- Basım Tarihi: 2023
- Doi Numarası: 10.54029/2023unk
- Dergi Adı: NEUROLOGY ASIA
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier
- Sayfa Sayıları: ss.775-779
- Anahtar Kelimeler: SPTBN4, spectrin, hypotonia, hearing loss, auditory neuropathy
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Congenital hypotonia and neuropathy caused by SPTBN4 mutation are the core findings of a newly
defined rare syndrome: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness. Although
hearing loss secondary to auditory neuropathy, dysmorphic findings, and epilepsy are distinctive features,
they are not present in every patient, leading to a wide range of phenotypic spectrum. We report here
a male patient with the SPTBN4 gene mutation presenting with core symptoms but not hearing loss
and epilepsy. There were also previously unreported dysmorphic findings such as prominent eyebrows,
bilateral constant esotropia, microphthalmia, bitemporal narrowing, low hairline, low-set ears, broad
nasal bridge, bulbous nose, anteverted nares, and high-arched palate, broadening the phenotypic
spectrum even further. In conclusion, both genetic background and phenotypic features of the SPTBN4
mutations were expanded in our report. After exclusion of spinal muscular atrophy in patients with
congenital hypotonia and areflexia, the SPTBN4 mutations should be considered.