Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.

Talal Jamil Qazi Qiao WuAilikemu AierkenDaru LuIhtisham BukhariHafiz Muhammad Jafar Hussain Jingmin Yang Asif Mir Hong Qing

Published in: BMC medical genetics (2020)

A novel missense variant in the SMS, c.905C > T p. (Ser302Leu), causing Snyder- Robinson Syndrome (SRS) is reported in three members of Pakistani Family.

Keyphrases

genome wide
case report
copy number
dna methylation
genome wide identification