Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study

Objective: Genetic polymorphisms in genes involved growth process and Vitamin-D metabolism form a significant etiology behind hormone deficiency short stature. The aim of this study was to explore for known unknown variants related stature family based using whole exome sequencing (WES).
 Method: This family-based included with members diagnosed deficiency, (four boys affected four non-affected). participants were recruited from King Abdulaziz University Hospital (Jeddah, Saudi Arabia) referred Fahad Centre Medical Research Arabia April 2022 June 2022. consanguineous parents one the (aged 16 years old) underwent WES.
 Results: Several RNPC3, ACAN, GC, VDR LRP2 identified index cases but not controls. Novel frameshift splice region RNPC3 (c.358dupA, p.Arg120fs) detected. Other missense also observed including ACAN (c.2591C>T, c.2789G>T, c.2815T>A, c.4207A>G, c.4523A>C c.7119C>G), GC (rs4588 rs7041) (rs2075252 rs1991517). A start loss variant (rs2228570) high impact observed.
 Conclusions: Our findings suggest potential association these In study, novel pathogenic revealed as well other (GC, LRP2) that some or all might be associated deficiency. Further large-scale studies are required address its subsequent stature.
 doi: https://doi.org/10.12669/pjms.39.5.7601
 How cite this: Alharazy S, Naseer MI. Use identification genetic Growth Hormone Deficiency Short Stature: Family-Based Study. Pak J Med Sci. 2023;39(5):---------. is an Open Access article distributed under terms Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, reproduction any medium, provided original work properly cited.