Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

Tyrosinemia type II, also known as Richner‐Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability.

[1]  C. Kim,et al.  Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome , 2017, Journal of Inherited Metabolic Disease.

[2]  H. Per,et al.  Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation , 2016, Pediatrics international : official journal of the Japan Pediatric Society.

[3]  R. Betz,et al.  Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification. , 2015, Indian journal of dermatology, venereology and leprology.

[4]  M. Irkec,et al.  In Vivo Confocal Microscopic Features of Corneal Pseudodendritic Lesions in Tyrosinemia Type II , 2014, Cornea.

[5]  S. Abdelhak,et al.  Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome. , 2013, Gene.

[6]  G. Kymionis,et al.  Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins. , 2012, Journal of pediatric ophthalmology and strabismus.

[7]  Antonio Tugores,et al.  Manifestations and Evolution of Wilson Disease in Pediatric Patients Carrying ATP7B Mutation L708P , 2012, Journal of pediatric gastroenterology and nutrition.

[8]  G. Scherer,et al.  A large TAT deletion in a tyrosinaemia type II patient. , 2011, Molecular genetics and metabolism.

[9]  A. Aydın,et al.  Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion. , 2011, The Turkish journal of pediatrics.

[10]  D. Higgins,et al.  Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega , 2011, Molecular systems biology.

[11]  J. Pavelić,et al.  Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. , 2011, European journal of medical genetics.

[12]  Justin A. Lemkul,et al.  Tyrosine aminotransferase: biochemical and structural properties and molecular dynamics simulations , 2010, Protein & Cell.

[13]  Daniel Rios,et al.  Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .

[14]  E. Christensen,et al.  Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II , 2009, The British journal of dermatology.

[15]  E. Mayatepek,et al.  Richner–Hanhart Syndrome Detected by Expanded Newborn Screening , 2008, Pediatric dermatology.

[16]  E. Christensen,et al.  [Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)]. , 2008, Ugeskrift for laeger.

[17]  B. Andresen,et al.  TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping , 2006, Journal of Inherited Metabolic Disease.

[18]  M. Nilges,et al.  Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. , 2006, Molecular genetics and metabolism.

[19]  D. Niu,et al.  Corneal lesion as the initial manifestation of tyrosinemia type II. , 2006, Journal of the Chinese Medical Association : JCMA.

[20]  C. Scott.  The genetic tyrosinemias , 2006, American journal of medical genetics. Part C, Seminars in medical genetics.

[21]  M. Barzegari,et al.  Oculocutaneous tyrosinaemia or tyrosinaemia type 2: a case report , 2006, Journal of the European Academy of Dermatology and Venereology : JEADV.

[22]  F. Rongioletti,et al.  Richner–Hanhart Syndrome (Tyrosinemia II): Early Diagnosis of an Incomplete Presentation with Unusual Findings , 2006, Pediatric dermatology.

[23]  U. Mahesh,et al.  Richner hanhart syndrome , 2006, Indian journal of pediatrics.

[24]  V. Madan,et al.  Tyrosinaemia type II with diffuse plantar keratoderma and self‐mutilation , 2006, Clinical and experimental dermatology.

[25]  N. Ansari,et al.  Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart Syndrome) , 2005, Annals of Saudi medicine.

[26]  N. Maca-Meyer,et al.  Ancient mtDNA analysis and the origin of the Guanches , 2004, European Journal of Human Genetics.

[27]  Steven Henikoff,et al.  SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[28]  Ö. Aydın,et al.  Two siblings with tyrosinaemia type 2 , 2003, European Journal of Pediatrics.

[29]  R. Gatti,et al.  Pregnancy and tyrosinaemia type II , 2002, Journal of Inherited Metabolic Disease.

[30]  M. Macsai,et al.  Tyrosinemia type II: nine cases of ocular signs and symptoms. , 2001, American journal of ophthalmology.

[31]  Warren C. Lathe,et al.  Prediction of deleterious human alleles. , 2001, Human molecular genetics.

[32]  P. Bauer,et al.  High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study , 2000, Hepatology.

[33]  M. Rashed,et al.  Tyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic response. , 1999, Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit.

[34]  Michael Ruogu Zhang,et al.  Statistical features of human exons and their flanking regions. , 1998, Human molecular genetics.

[35]  R. Coleman,et al.  Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII , 1998, Human Genetics.

[36]  F. Allegra,et al.  Tyrosinemia Type 11: A Challenge for Ophthalmologists and Dermatologists , 1997, Pediatric dermatology.

[37]  T. Tallab.  Richner-Hanhart syndrome: importance of early diagnosis and early intervention. , 1996, Journal of the American Academy of Dermatology.

[38]  S. Al-hazzaa,et al.  Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. , 1995, Ophthalmic genetics.

[39]  P. Kaplan,et al.  Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. , 1995, The Journal of pediatrics.

[40]  T. Koeda,et al.  [A case of tyrosinemia type II with convulsion and EEG abnormality]. , 1993, No to hattatsu = Brain and development.

[41]  M. Di Rocco,et al.  Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[42]  D. Chitayat,et al.  Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: Intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus , 1992, Journal of Inherited Metabolic Disease.

[43]  J. Kirk,et al.  Outcome in tyrosinaemia type II. , 1991, Archives of disease in childhood.

[44]  E. Myers,et al.  Basic local alignment search tool. , 1990, Journal of molecular biology.

[45]  M. Phillips,et al.  Trypanosome ornithine decarboxylase is stable because it lacks sequences found in the carboxyl terminus of the mouse enzyme which target the latter for intracellular degradation. , 1990, The Journal of biological chemistry.

[46]  K. Biemann,et al.  The structure of tyrosine aminotransferase. Evidence for domains involved in catalysis and enzyme turnover. , 1989, The Journal of biological chemistry.

[47]  R. Magenis,et al.  Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II , 1987, Human Genetics.

[48]  N. Balato,et al.  Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia , 1986, Journal of Inherited Metabolic Disease.

[49]  K. Kida,et al.  Hepatic tyrosine aminotransferase in tyrosinaemia type II , 1982, Journal of Inherited Metabolic Disease.

[50]  M. Odiévre,et al.  Tyrosine aminotransferase isoenzyme deficiency. , 1979, The Journal of pediatrics.

[51]  L. Goldsmith,et al.  TYROSINE‐INDUCED SKIN DISEASE , 1978, The British journal of dermatology.

[52]  E. Hanhart.  Neue Sonderformen von Keratosis palmo-plantaris, u. a. eine regelmäßig-dominante mit systematisierten Lipomen, ferner 2 einfach-rezessive mit Schwachsinn und z.T. mit Hornhautveränderungen des Auges (Ektodermalsyndrom) , 1947 .

[53]  S. Tanner.  Wilson disease: lessons from an island population. , 2012, Journal of pediatric gastroenterology and nutrition.

[54]  N. Gokhale,et al.  Unusual dendritic keratitis. , 2007, Indian journal of ophthalmology.

[55]  H. Takahashi,et al.  Richner-Hanhart syndrome: report of a case with a novel mutation of tyrosine aminotransferase. , 2006, Journal of dermatological science.

[56]  M. Bouayed,et al.  [Tyrosinemia type II. Case report]. , 2005, Bulletin de la Societe belge d'ophtalmologie.

[57]  B. H. Hernández,et al.  Tirosinemia tipo II : dos casos autóctonos de Gran Canaria , 1992 .

[58]  G. Lembo,et al.  Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome. , 1986, Dermatologica.

[59]  P. Borgogni,et al.  Familial Tyrosinaemia with Eye and Skin Lesions , 1977 .