Fructose-1,6-Bisphosphatase Deficiency: A Pediatric Case Report

Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare disorder of glucose metabolism, mainly revealed by hypoglycemia and lactic acidosis. The disease is caused by a mutation of FBP1 gene, which is clustered in a 31-kb region on chromosome 9q22. Case presentation: We described a two-and-half-year-old boy diagnosed as FBPase deficiency. The result of gene analysis showed that the patient had a compound heterozygote for the G164S and P308R, respectively inherited from his father and mother. To some degree, mutations are associated with activity of enzyme, which is corresponding to the level of glucose and extent of brain damage. Patients are advised to reduce intake of fructose and sucrose and avoid long-term fasting in order to reduce the risk of metabolic decompensation. Conclusions: This report would like to provide profound insights of FBPase deficiency.

Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

We aimed to understand the etiology behind the abnormal craniofacial contour and other clinical presentations in a number of children with Robinow syndrome. Seven children with Robinow syndrome were enrolled in this study (autosomal recessive caused by homozygous mutations in the ROR2 gene on chromosome 9q22, and the autosomal dominant caused by heterozygous mutation in the WNT5A gene on chromosome 3p14). In the autosomal recessive (AR) group, the main clinical presentations were intellectual, disability, poor schooling achievement, episodes of headache/migraine, and poor fine motor coordinative skills, in addition to massive restrictions of the spine biomechanics causing effectively the development of kyposcoliosis and frequent bouts of respiratory infections. Three-dimensional reconstruction computed tomography scan revealed early closure of the metopic and the squamosal sutures of skull bones. Massive spinal malsegmentation and unsegmented spinal bar were noted in the AR group. In addition to severe mesomelia and camptodactyly, in the autosomal dominant (AD) group, no craniosynostosis but few Wormian bones and the spine showed limited malsegemetation, and no mesomelia or camptodactyly have been noted. We wish to stress that little information is available in the literature regarding the exact pathology of the cranial bones, axial, and appendicular malformations in correlation with the variable clinical presentations in patients with the 2 types of Robinow syndrome.

MYH9 binds to lncRNA genePTCSC2and regulatesFOXE1in the 9q22 thyroid cancer risk locus

A locus on chromosome 9q22 harbors a SNP (rs965513) firmly associated with risk of papillary thyroid carcinoma (PTC). The locus also comprises the forkhead box E1 (FOXE1) gene, which is implicated in thyroid development, and a long noncoding RNA (lncRNA) gene, papillary thyroid cancer susceptibility candidate 2 (PTCSC2). How these might interact is not known. Here we report thatPTCSC2binds myosin-9 (MYH9). In a bidirectional promoter shared byFOXE1andPTCSC2, MYH9 inhibits the promoter activity in both directions. This inhibition can be reversed byPTCSC2, which acts as a suppressor. RNA knockdown ofFOXE1in primary thyroid cells profoundly interferes with the p53 pathway. We propose that the interaction between the lncRNA, its binding protein MYH9, and the coding geneFOXE1underlies the predisposition to PTC triggered by rs965513.

Expression Pattern and Gene Characterization ofAsporin

We have discovered a new member of the class I small leucine-rich repeat proteoglycan (SLRP) family which is distinct from the other class I SLRPs since it possesses a unique stretch of aspartate residues at its N terminus. For this reason, we called the moleculeasporin. The deduced amino acid sequence is about 50% identical (and 70% similar) to decorin and biglycan. However, asporin does not contain a serine/glycine dipeptide sequence required for the assembly ofO-linked glycosaminoglycans and is probably not a proteoglycan. The tissue expression ofasporinpartially overlaps with the expression ofdecorinandbiglycan. During mouse embryonic development,asporinmRNA expression was detected primarily in the skeleton and other specialized connective tissues; very littleasporinmessage was detected in the major parenchymal organs. The mouseasporingene structure is similar to that ofbiglycananddecorinwith 8 exons. Theasporingene is localized to human chromosome 9q22–9q21.3 whereasporinis part of a SLRP gene cluster that includesextracellular matrix protein 2,osteoadherin, andosteoglycin. Further analysis shows that, with the exception ofbiglycan, all known SLRP genes reside in three gene clusters.