Clinical and genetic analysis of a case of O'Donnell-Luria-Rodan syndrome manifesting as growth retardation

VernacularTitle:以生长发育迟缓为表现的1例O'Donnell-Luria-Rodan综合征临床与遗传学特征分析
Author: Jingjing YUAN ¹ ; Yujun WANG ; Lusha LI ; Yanhong XIE ; Zhaohui MO ; Ping JIN
Author Information

1. 中南大学湘雅三医院内分泌科,长沙 410013
Keywords: O'Donnell-Luria-Rodan syndrome; growth retardation; low-coverage massively parallel CNV sequencing
From: Journal of Central South University(Medical Sciences) 2024;49(4):649-654
CountryChina
Language:Chinese
Abstract: O'Donnell-Luria-Rodan(ODLURO)syndrome is an autosomal dominant genetic disorder caused by mutations in the KMT2E(lysine methyltransferase 2E)gene.The Third Xiangya Hospital of Central South University admitted a 12-year and 9-month-old male patient who presented with growth retardation,intellectual disability,and distinctive facial features.Peripheral blood was collected from the patient,and DNA was extracted for genetic testing.Chromosome karyotyping showed 46XY.Whole-exome sequencing and low-coverage massively parallel copy number variation sequencing(CNV-seq)revealed a 506 kb heterozygous deletion in the 7q22.3 region,which includes 6 genes,including KMT2E.The patient was diagnosed with ODLURO syndrome.Both the patient's parents and younger brother had normal clinical phenotypes and genetic test results,indicating that this deletion was a de novo mutation.The clinical and genetic characteristics of this case can help increase clinicians'awareness of ODLURO syndrome.