Identification of a Homozygous Deletion within FGD4 in a Charcot-Marie-Tooth type 4H Family byExome Sequencing

Yarar C., Baş H., Çelik G., Çilingir O., Çarman K. B., Artan S.

JOURNAL OF PEDIATRIC NEUROLOGY, cilt.20, sa.03, ss.224-226, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 20 Sayı: 03
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1055/s-0041-1732482
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.224-226
  • Anahtar Kelimeler: Charcot-Marie-Tooth, CMT4H, FGD4, deletion, copy number variations, GENETICS, DISEASE
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous peripheral neuropathies by causing distal muscle weakness, sensory impairment, hyporeflexia, and skeletal deformities. Both of sequence and copy number variations (CNVs) of over 80 genes have been described in CMT patients so far, and FGD4 variants are among the uncommon causes of the disease. In this article, we present four siblings with early-onset CMT, who were found to carry a novel homozygous deletion within FGD4 gene by exome sequencing. Since CNVs of CMT-related genes other than PMP22 have been rarely described in literature and they are prone to be overlooked by next generation sequencing, this report confirms the importance of paying additional attention to these variants to increase diagnostic yield in CMT.