A Case Report of Hiatt-Neu-Cooper Neurodevelopmental Syndrome
10.12376/j.issn.2097-0501.2024.03.014
- VernacularTitle:Hiatt-Neu-Cooper神经发育综合征一例
- Author:
Jiajia GUO
1
,
2
;
Yunhong WU
;
Ladi TAO
Author Information
1. 山西医科大学儿科医学系,太原 030001
2. 山西省儿童医院神经内科,太原 030013
- Keywords:
Hiatt-Neu-Cooper neurodevelopmental syndrome;
RALA gene;
global developmental delay;
trio-based whole-exome sequencing
- From:
JOURNAL OF RARE DISEASES
2024;3(3):363-367
- CountryChina
- Language:Chinese
-
Abstract:
Hiatt-Neu-Cooper neurodevelopmental syndrome(HINCONS),a rare neurodevelopmental disorder closely associated with a heterozygous mutation in the RALA gene on 7p14,is characterized by prominent in-tellectual disability or global developmental delay.Currently,no effective treatment options are available for this dis-ease.This article reports a case of HINCONS presenting with global developmental delay,particularly in language and motor development,along with decreased muscle tone,short stature,distinctive facial features,and congenital ventricular septal defect.No significant abnormalities were found in laboratory biochemical tests.Head MRI revealed enlarged ventricles and increased space in the subarachnoid and convexity regions.Trio-based whole exome sequen-cing testing identified a novel variant RALA gene c.475(exon4)A＞G(p.K159E)in the affected child.In this study,we performed a retrospective analysis of the clinical features of 12 reported cases of HINCONS from the litera-ture,with the aim of providing a reference for the clinical diagnosis and genetic counseling of HINCONS.
