Börjeson -Forssman -Lehmann syndrome: A case report.
10.11817/j.issn.1672-7347.2023.220414
- Author:
Langui PAN
1
,
2
,
3
;
Fei YIN
1
,
2
,
4
;
Shimeng CHEN
1
,
2
,
5
;
Juan XIONG
1
,
2
,
5
;
Fang HE
1
,
2
,
5
;
Jing PENG
1
,
2
,
5
Author Information
1. Department of Pediatrics, Xiangya Hospital, Central South University
2. Research Center of Children Intellectual Disability of Hunan Province
3. Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China. 865132153@qq.com.
4. Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China. yf2323@hotmail.com.
5. Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China.
- Publication Type:Journal Article
- Keywords:
Börjeson-Forssman-Lehmann syndrome;
PHF6 gene;
developmental delay;
intellectual disability
- MeSH:
Humans;
Male;
Female;
Child;
Infant;
Intellectual Disability/genetics*;
Mental Retardation, X-Linked/pathology*;
Obesity/complications*;
Hypogonadism/pathology*
- From:
Journal of Central South University(Medical Sciences)
2023;48(2):294-301
- CountryChina
- Language:English
-
Abstract:
Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.
