Research Information System
57th European Society of Human Genetics (ESHG) Conference, Berlin, Germany, 1 - 04 June 2024, pp.987
Background/Objectives: Children with <-2 SDS height for age
and ethnicity are defined as short stature. Here we aim to present
genetic etiologies in a Turkish pediatric patient cohort with short
stature.
Methods: Genetic testing and clinical follow-up of pediatric
patients with short stature were retrospectively reviewed. Patients
tested with Whole Exome Sequencing (WES) and SNP-array
analyses were included. Patients with secondary causes of short
stature and those with additional chromosomal diseases and
methylation defects that may cause short stature were not
included in the study. SNP-array and WES were performed in 40
and 76 patients, respectively.
Results: Of the total cases, 9 (37.5%) were female and 15
(62.5%) were male. The median age at initial presentation was 1,81
years. The median height of boys was -2.86 SDS and that of girls
was -3.68 SDS. 24 unique variations of ACAN(n = 1), ACP5(n = 1),
BLM(n = 2), BRAF(n = 1), COL10A1(n = 1), CUL7(n = 2),
DYNC2H1(n = 2), EXT1(n = 1), FGD1(n = 2), GNPAT(n = 1), LRP5(n =
1), NF1(n = 1), OBSL1(n = 2), PGAP1(n = 1), SRCAP(n = 2),
TRIM37(n = 1), TRPV4(n = 2) genes were found in 22 patients from
20 different families. Diagnostic success rate was 28.94% in
patients who were tested with WES. 4p16 and SHOX deletions
were found in 2 patients from 2 different families. Growth
hormone therapy was administered to patients with variations in
ACAN, ACP5, COL10A1 genes and SHOX deletion.
Conclusion: It is necessary to reveal the genetic causes of short
stature for managing treatable causes in a timely manner, having
information about the prognosis and providing accurate genetic
counselling to families, including the risk of recurrence.
Grants: No
Conflict of Interest: None declared