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A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient
Author(s) -
Raveendran Suresh Kumar,
Ramachandran Lola,
Joseph Lincy,
Asokan Aneesh Kumar,
Raj Soumya,
George Alex,
James Jimcy
Publication year - 2019
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.13377
Subject(s) - testis determining factor , missense mutation , gonadal dysgenesis , mutation , biology , genetics , gene , hmg box , sexual differentiation , sex reversal , gene mutation , y chromosome , microbiology and biotechnology , endocrinology , dna binding protein , transcription factor
The SRY gene is considered as the key player in the male sexual differentiation and developmental pathway. SRY gene mutations account for ~15% of 46,XY disorders of sexual development patients, and majority of them resides within the HMG domain of the protein. In this study, we report a novel missense mutation within the HMG domain of SRY gene, and an A‐to‐T transition causes E89V amino acid substitution in a 15‐year‐old female patient with 46,XY karyotype and complete gonadal dysgenesis. Moreover, three‐dimensional analysis of protein–DNA complex showed that the replacement of highly hydrophilic glutamic acid residue with a hydrophobic residue like valine would have an impact on the structure of protein. In conclusion, we identified a novel SRY mutation in a 46,XY female patient with complete gonadal dysgenesis, and based on the protein modelling, we propose that the identified mutation could impair normal function of the SRY protein.