Affiliation:
1. Department of Medical Genetics KMCH Institute of Health Sciences and Research Coimbatore Tamil Nadu India
2. Department of Biochemistry Dr. N. G. P. College of Arts and Science College Coimbatore Tamil Nadu India
3. Centre for Neuroscience, Department of Biotechnology Karpagam Academy of Higher Education (Deemed to be University) Coimbatore Tamil Nadu India
Abstract
AbstractGoldberg–Shprintzen Syndrome (GOSHS, OMIM# 182212) is a rare autosomal dominant disorder with the characteristic features of craniosynostosis, developmental delays, intellectual disability, hypotonia, joint laxity, respiratory dysfunction, cardiovascular abnormalities, and abdominal hernias. Here we presented a rare case of 5‐years old male child with facial dysmorphism, global developmental delay, microcephaly, hypotonia, respiratory infection, breathing abnormalities, hematochezia, and meconium ileus. Whole exome sequencing revealed a novel homozygous deletion mutation in kinesin family binding protein (KIFBP) gene, NM_015634.4:c.1151del (p.Leu384Ter), which confirmed the molecular diagnosis of GOSHS.