2.1. Sample Collection

In this study, clinically confirmed nonsyndromic cleft lip and palate (N = 86; age of patients ranging from 0 to 2 years) patients and age–sex-matched patients ranging from 0 to 2 years, including male and female healthy controls (N = 10) were recruited for the study, after signing an informed consent form. Patients were recruited from Medical Genetics OPD, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow (India) and Plastic, craniofacial & microsurgery OPD, Vivekananda polyclinic & Institute of Medical Sciences, Lucknow (UP). The exclusion criteria for NSCLP cases were patients with any other history of developmental disorder, syndromic forms of NSCLP (e.g., eye, brain, limb anomalies and cardiac defects). The healthy controls were Indian-origin children without family history of orofacial cleft.

The study was approved by the Institutional Medical Research Ethics Committee of the Sanjay Gandhi Postgraduate Institute of Medical Sciences, India, (2018-107-EMP-EXP), and a written informed consent was taken from the guardians.

Genotyping was conducted for 86 cases and 10 control samples using Affymetrix PMRA array.