Report of a case with 14q12 triplication and literature review for FOXG1 related diseases.
- VernacularTitle:一例14q12三倍重复及FOXG1基因相关疾病分析
- Author:
Fangfang WANG
1
;
Rong LUO
;
Bin ZHOU
;
Tao YU
;
Xiaolu CHEN
Author Information
- Publication Type:Case Reports
- MeSH: Autism Spectrum Disorder; genetics; Child; Chromosomes, Human, Pair 14; Comparative Genomic Hybridization; DNA Copy Number Variations; Female; Forkhead Transcription Factors; genetics; Humans; Intellectual Disability; genetics; Magnetic Resonance Imaging; Microcephaly; genetics; Nerve Tissue Proteins; genetics
- From: Chinese Journal of Medical Genetics 2017;34(5):671-675
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report on the first case with chromosome 14q12 triplication involving the FOXG1 gene.
METHODSThe clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review.
RESULTSThe 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases. Magnetic resonance imaging has documented heterotopic gray matter changes. aCGH showed a 1.9 Mb triplication in the 14q12 region, which involved the FOXG1 and a predicted gene 14orf23.
CONCLUSIONFor patients with early-onset severe psychomotor retardation, epilepsy, microcephaly, severe cognitive impairment and encephalodysplasia, analysis of copy number variations and mutations of the FOXG1 gene is crucial for the diagnosis.
