A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family

Naqvi S. F., Shabbir R. M. K., Tolun A., Basit S., Malik S.

GENETIC TESTING AND MOLECULAR BIOMARKERS, cilt.26, sa.1, ss.37-42, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1089/gtmb.2021.0231
  • Dergi Adı: GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.37-42
  • Anahtar Kelimeler: intellectual disability, short stature, small head, developmental delay, speech apraxia, MUTATIONS, EVOLUTION, GENE
  • İstanbul Teknik Üniversitesi Adresli: Evet

Özet

Aims: Autosomal recessive primary microcephaly (MCPH) is a clinically rare and genetically highly heterogeneous developmental disorder. Biallelic variants in the abnormal spindle-like microcephaly-associated (ASPM) gene account for 40% to 68% of all MCPH cases. This study was designed to elucidate the genetic basis of MCPH in an extended family To highlight recurrent mutations useful in implementing genetic testing programs, we further aimed to carry out a descriptive review of the reported ASPM mutations.