4th International Conference on Neurology and Brain Disorders

September 09-11, 2021

September 09 -11, 2021 | Virtual Event
INBC 2021

Kapil Kumar Avasthi

Speaker at Neurology and Brain Disorders 2021 - Kapil Kumar Avasthi
Dept. of Medical Genetics, India
Title : KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia and Cleft palate


Congenital myopathies are heterogeneous group of neuromuscular disorders and characterised by hypotonia early onset muscular weakness, developmental delay. Congenital myopathies are classified into centranuclear myopathies, nemaline myopathies, core myopathies and congenital fiber-type disproportion based on major pathological features found in muscle biopsies.  

Material and Methods 
The present study was conducted on 25 syndromic orofacial cleft patients present with different clinical features. After clinical evaluation, genomic DNA was extracted by standard protocol (Qiagen kit). Clinical exome sequencing (illumina platform) was performed in patient DNA sample and sequencing data was analysed for sequence variant and identified variant validation was done by Sanger sequencing method.

A homozygous nonsense variant in exon 1 of the KLHL40 gene (chr3:42727712G>A: Depth 53×) that results in a stop codon and premature truncation of the protein at codon 201 (p.Trp201Ter; ENST000003297777) was detected.

This study suggest the involvement of KLHL40 mutation with fetal akinesia and severe namaline myopathies, also associated with cleft palate. At present scenario there is no evidence which recognize that cleft palate associated with severe nemaline myopathies and fetal akinesia. 

Key Words: Congenital myopathy, Nemaline myopathy, KLHL40, Clinical Exome Sequencing.

Audience Take Away:

  • Based on this study clinician will be able to produce proper management and therapy to patient 
  • Attendees will be able to provide proper diagnosis to patients with severe nemaline myopathy and fetal akinesia and cleft palate


I am Kapil Kumar Avasthi, senior researcher in the Dept. of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical sciences, Lucknow, (UP), India. I have Joined SGPGIMS in Feb 2017 in the under guidance of Prof. Sarita aggrawal (SGPGIMS) And Co-guide Prof. Inusha Panigrahi (Dept. of Paediatrics PGIMER, Changigrah). I am working birth defect related disorders and diseases, and my title of study is “study on genetic heterogeneity in orofcial clefts: cleft lip and palate. I have completed my masters in Biotechnology (2015), and under-graduation also in biotechnology (2013).