“…Earlier, this variant was reported by Raza et al in [ 11 ] in another family of Kashmiri origin; however, upon investigation, it was confirmed that both families had no evidence of relationship. According to the human genome mutation database (HGMD Professional 2023.4) and literature, only eleven mutations have been reported in NECTIN4, which include three nonsense (p.Asp61 ∗ , p.Gln77 ∗ , and p.Arg55 ∗ ), a frameshift (p.Pro304Hisfs ∗ 2), five missense (p.Pro212Arg, p.His83Tyr, p.Val242Met, p.Thr185Met, and p.Leu81Pro), an exon 2 deletion, and an apparent missense (p.Arg284Gln) inducing NECTIN4 splicing [ 5 , 11 , 14 , 15 , 22 ].…”