Clinical and genetic analysis of a case of O'Donnell-Luria-Rodan syndrome manifesting as growth retardation. / 以çé¿åè²è¿ç¼ä¸ºè¡¨ç°ç1ä¾O'Donnell-Luria-Rodan综åå¾ä¸´åºä¸éä¼ å¦ç¹å¾åæ.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 49(4): 649-654, 2024 Apr 28.
Article
in En, Zh
| MEDLINE
| ID: mdl-39019795
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Intellectual Disability
Limits:
Child
/
Humans
/
Male
Language:
En
/
Zh
Journal:
Zhong Nan Da Xue Xue Bao Yi Xue Ban
Journal subject:
MEDICINA
Year:
2024
Document type:
Article
Affiliation country:
China