A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection

Given the special clinical manifestations of the patient, an underlying genetic disease was considered. [...]a trio whole-exome sequencing was performed for the patient and her parents. [5] The clinical manifestations of MDPL are similar to other lipodystrophy syndromes, and, currently, diagnostic g...

Full description

Saved in:
Bibliographic Details
Published in:Chinese medical journal 2020-08, Vol.133 (16), p.2009-2011
Main Authors: Wang, Xiu-Wen, Lu, Ling-Yun, Xie, Ying, Yu, Xi-Jie
Format: Article
Language:English
Subjects:
China
Correspondence
Deafness
Deoxyribonucleic acid
Disease
DNA
DNA polymerase
DNA Polymerase III
Fasting
Female
Genetic testing
Glucose
Hearing loss
Humans
Insulin resistance
Lipodystrophy - diagnosis
Lipodystrophy - genetics
Magnetic resonance imaging
Mutation
Mutation - genetics
Peptides
Phenotype
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Given the special clinical manifestations of the patient, an underlying genetic disease was considered. [...]a trio whole-exome sequencing was performed for the patient and her parents. [5] The clinical manifestations of MDPL are similar to other lipodystrophy syndromes, and, currently, diagnostic guidelines for MDPL are not available. [...]the clinical diagnosis of this condition is a significant challenge. [...]there is no effective treatment for MDPL.
ISSN:0366-6999
2542-5641
DOI:10.1097/CM9.0000000000000986