《Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism》 was written by Ehmke, Nadja; Cusmano-Ozog, Kristina; Koenig, Rainer; Holtgrewe, Manuel; Nur, Banu; Mihci, Ercan; Babcock, Holly; Gonzaga-Jauregui, Claudia; Overton, John D.; Xiao, Jing; Martinez, Ariel F.; Muenke, Maximilian; Balzer, Alexander; Jochim, Judith; El Choubassi, Naji; Fischer-Zirnsak, Bjoern; Huber, Celine; Kornak, Uwe; Elsea, Sarah H.; Cormier-Daire, Valerie; Ferreira, Carlos R.. Application of 98-98-6 And the article was included in Bone (New York, NY, United States) in 2020. The article conveys some information:
Catel-Manzke syndrome is characterized by the combination of Pierre Robin sequence and radial deviation, shortening as well as clinodactyly of the index fingers, due to an accessory ossification center. Mutations in TGDS have been identified as one cause of Catel-Manzke syndrome, but cannot be found as causative in every patient with the clin. diagnosis. We performed a chromosome microarray and/or exome sequencing in three patients with hand hyperphalangism, heart defect, short stature, and mild to severe developmental delay, all of whom were initially given a clin. diagnosis of Catel-Manzke syndrome. In one patient, we detected a large deletion of exons 1-8 and the missense variant c.1282C > T (p.Arg428Trp) in KYNU (NM_003937.2), whereas homozygous missense variants in KYNU were found in the other two patients (c.989G > A (p.Arg330Gln) and c.326G > C (p.Trp109Ser)). Plasma and urine metabolomic anal. of two patients indicated a block along the tryptophan catabolic pathway and urine organic acid anal. showed excretion of xanthurenic acid. Biallelic loss-of-function mutations in KYNU were recently described as a cause of NAD deficiency with vertebral, cardiac, renal and limb defects; however, no hand hyperphalangism was described in those patients, and Catel-Manzke syndrome was not discussed as a differential diagnosis. In conclusion, we present unrelated patients identified with biallelic variants in KYNU leading to kynureninase deficiency and xanthurenic aciduria as a very likely cause of their hyperphalangism, heart defect, short stature, and developmental delay. We suggest performance of urine organic acid anal. in patients with suspected Catel-Manzke syndrome, particularly in those with cardiac or vertebral defects or without mutations in TGDS. The experimental part of the paper was very detailed, including the reaction process of Picolinic acid(cas: 98-98-6Application of 98-98-6)
Picolinic acid(cas: 98-98-6) is used in the preparation of 2-Aminodihydro[1,3]thiazines as BACE 2 inhibitors and their preparation and use in the treatment of diabetes.Application of 98-98-6