Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM. Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying stargardt disease. Am J Hum Genet. 2018;102:517–27.
Article CAS PubMed PubMed Central Google Scholar
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am J Hum Genet. 2017;100:257–66.
Article CAS PubMed PubMed Central Google Scholar
Aulehla-Scholz C, Heilbronner H. Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum Mutat. 2003;21:399–400.
Bashyam MD, Chaudhary AK, Kiran M, Nagarajaram HA, Devi RR, Ranganath P, Dalal A, Bashyam L, Gupta N, Kabra M, Muranjan M, Puri RD, Verma IC, Nampoothiri S, Kadandale JS. Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. J Cell Biochem. 2014;115:566–74.
Article CAS PubMed Google Scholar
Becker PW, Sacilotto N, Nornes S, Neal A, Thomas MO, Liu K, Preece C, Ratnayaka I, Davies B, Bou-Gharios G, De Val S. An Intronic Flk1 enhancer directs arterial-specific expression via RBPJ-mediated venous repression. Arterioscler Thromb Vasc Biol. 2016;36:1209–19.
Article CAS PubMed PubMed Central Google Scholar
Cederbaum S. Phenylketonuria: an update. Curr Opin Pediatr. 2002;14:702–6.
Chang CY, Perng CL, Cheng SN, Hu SH, Wu TY, Lin SY, Chen YC. Deep intronic variant c.5999-277G>A of F8 gene may be a hot spot mutation for mild hemophilia A patients without mutation in exonic DNA. Eur J Haematol. 2019;103:47–55.
Article CAS PubMed Google Scholar
Chen C, Zhao Z, Ren Y, Kong X. Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:791–5.
Fadaie Z, Khan M, Del Pozo-Valero M, Cornelis SS, Ayuso C, Cremers FPM, Roosing S, The Abca Study Group. Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. Hum Mutat. 2019;40:2365–76.
Article CAS PubMed PubMed Central Google Scholar
Gao J, Li X, Guo Y, Yu H, Song L, Fang Y, Yuan E, Shi Q, Zhao D, Yuan E, Zhang L. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genom. 2022;16:23.
Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mutat. 2010;31:437–44.
Article CAS PubMed PubMed Central Google Scholar
Jin X, Yan Y, Zhang C, Tai Y, An L, Yu X, Zhang L, Hao S, Cao X, Yin C, Ma X. Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria. Hum Mutat. 2022;43:56–66.
Article CAS PubMed Google Scholar
Keren H, Lev-Maor G, Ast G. Alternative splicing and evolution: diversification, exon definition and function. Nat Rev Genet. 2010;11:345–55.
Article CAS PubMed Google Scholar
Kostandyan N, Britschgi C, Matevosyan A, Oganezova A, Davtyan A, Blau N, Steinmann B, Thöny B. The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. Mol Genet Metab. 2011;104:S93–6.
Article CAS PubMed Google Scholar
Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria. Exp Mol Med. 2008;40:533–40.
Article CAS PubMed PubMed Central Google Scholar
Li N, Jia H, Liu Z, Tao J, Chen S, Li X, Deng Y, Jin X, Song J, Zhang L, Liang Y, Wang W, Zhu J. Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. Sci Rep. 2015;5:15769.
Article CAS PubMed PubMed Central Google Scholar
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li YC, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee SS, Nguyen TK, Hsiao H, Egranov SD, Putluri N, Coarfa C, Hawke DH, Gunaratne PH, Tsai KL, Han L, Hung MC, Calin GA, Namour F, Guéant JL, Muntau AC, Blau N, Sutton VR, Schiff M, Feillet F, Zhang S, Lin C, Yang L. A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science. 2021;373:662–73.
Article CAS PubMed PubMed Central Google Scholar
Liu N, Huang Q, Li Q, Zhao D, Li X, Cui L, Bai Y, Feng Y, Kong X. Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China. BMC Med Genet. 2017;18:108.
Article PubMed PubMed Central Google Scholar
Long M, Betrán E, Thornton K, Wang W. The origin of new genes: glimpses from the young and old. Nat Rev Genet. 2003;4:865–75.
Article CAS PubMed Google Scholar
Lu Q, Liu Y, Yang B, Xie K, Zou Y, Lu W, Wang F. Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019;36:1057–61.
Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease. Mol Genet Genomic Med. 2020;8:e1090.
Article CAS PubMed PubMed Central Google Scholar
Okano Y, Kudo S, Nishi Y, Sakaguchi T, Aso K. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan. J Hum Genet. 2011;56:306–12.
Article CAS PubMed Google Scholar
Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS. Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. Nucleic Acids Res. 2015;43:4627–39.
Article CAS PubMed PubMed Central Google Scholar
Scriver CR. Phenylketonuria–genotypes and phenotypes. N Engl J Med. 1991;324:1280–1.
Article CAS PubMed Google Scholar
Sun W, Xiao X, Li S, Jia X, Zhang Q. A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ ocular-only Stickler syndrome. Ophthalmic Physiol Opt. 2020;40:281–8.
Tozawa Y, Abdrabou SSMA, Nogawa-Chida N, Nishiuchi R, Ishida T, Suzuki Y, Sano H, Kobayashi R, Kishimoto K, Ohara O, Imai K, Naruto T, Kobayashi K, Ariga T, Yamada M. A deep intronic mutation of c.1166–285T>G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM). Clin Immunol. 2019;208:108256.
Article CAS PubMed Google Scholar
Vaz-Drago R, Custódio N, Carmo-Fonseca M. Deep intronic mutations and human disease. Hum Genet. 2017;136:1093–111.
Article CAS PubMed Google Scholar
Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y. Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Clin Chim Acta. 2018;481:132–8.
Article CAS PubMed Google Scholar
Writing Group For Practice Guidelines For Diagnosis And Treatment of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Huang S, Song F. Clinical practice guidelines for phenylketonuria. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020;37:226–34.
Xiao Y, Gu Q, Wu HR, Wang ST, Pei P, Zheng XF, Pan H, Ma YN. Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families. Chin Med J. 2021;134:1626–8.
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