Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion:A case report

BACKGROUND Forkhead box protein 1(FOXP1)(OMIM:605515)at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression.Earlier studies have suggested that FOXP1,an oncogene,is capable of initiating tumorigenicity depending on the cell type.FOXP1 also plays an important role in regulating the cell development and functions of the immune system,e.g.,regulating B-cell maturation and mononuclear phagocyte differentiation,and in the occurrence and development of various immune diseases.The mRNA of this gene is widely expressed in humans,and its differential expression is related to numerous diseases.CASE SUMMARY A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features(low-set ears).DNA samples were extracted from the child’s and his parents’peripheral blood to detect whole-exome sequences and whole-genome copy number variations.Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child.Physical examination upon admission showed that the child was generally in good condition,had a moderate nutritional status,a slightly slow response to external stimuli,equally large and equally round bilateral pupils,was sensitive to light reflection,and had poor eye contact and joint attention.He had no meaningful utterance and could not pronounce words properly.He was able to use gestures to simply express his thoughts,to perform simple actions,and to listen to instructions.He had no rash,cafe-au-lait macules,or depigmentation spots.He had thick black hair and low-set ears.He had highly sensitive skin,especially on his face and palms.He had no abnormal palm fingerprint.Cardiopulmonary and abdominal examinations revealed no abnormalities.He had normal limb muscle strength and tension.He showed normal tendon reflexes of both knees.His bilateral Babinski and meningeal irritation signs were negative.He had a normal male vulva.CONCLUSION We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion.This study provides a molecular basis for etiological diagnosis and treatment of the child,as well as for genetic counseling for the pedigree.

Congenital muscular dystrophy caused by beta1,3-Nacetylgalactosaminyltransferase 2 gene mutation:Two case reports

BACKGROUND Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2(B3GALNT2)gene can lead to impaired glycosylation ofα-dystroglycan,which,in turn,causes congenital muscular dystrophy(CMD).The clinical phenotypes of CMD are broad,and there are only a few reports of CMD worldwide.CASE SUMMARY This report describes the cases of two children with CMD caused by B3GALNT2 gene mutation.The main manifestations of the two cases were abnormal walking posture,language development delay,and abnormal development of the white matter.Case 2 also had unreported symptoms of meningocele and giant arachnoid cyst.Both cases had compound heterozygous mutations of the B3GALNT2 gene,each containing a truncated mutation and a missense mutation,and three of the four loci had not been reported.Nineteen patients with CMD caused by B3GALNT2 gene mutation were found in the literature.Summary and analysis of the characteristics of CMD caused by B3GALNT2 gene mutation showed that 100%of the cases had nervous system involvement.Head magnetic resonance imaging often showed abnormal manifestations,and more than half of the children had eye and muscle involvement;some of the gene-related symptoms were self-healing.CONCLUSION B3GALNT2 gene can be used as one of the candidate genes for screening CMD,cognitive development retardation,epilepsy,and multiple brain developmental malformations in infants.

Warkany Syndrome Revealed by Recurrent Infections: Case Report

Introduction: Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. Aims: Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. Case Description: The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. Conclusion: In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.

Development of Non-Halogen Flame Retardant Optical Fiber and Optical Fiber Cord

A non-halogen highly flame-retardant 0.9mm optical fiber and 2.0mm simplex optical cord, which are harmonized with the ecosystem, have been developed. The characteristics of them are presented in this paper.