Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes

2008 ◽  
Vol 146A (21) ◽  
pp. 2740-2745 ◽  
Author(s):  
Daniel Zanetti Scherrer ◽  
Fabiana Alexandrino ◽  
Maria Letícia Cintra ◽  
Edi Lúcia Sartorato ◽  
Carlos Eduardo Steiner
Keyword(s):  
Candidate Genes ◽  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Type Ii ◽  
Molecular Studies

Male with type II autosomal recessive cutis laxa

2008 ◽  
Vol 45 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Kiyoshi Imaizumi ◽  
Kenji Kurosawa ◽  
Yoshio Makita ◽  
Mitsuo Masuno ◽  
Yoshikazu Kuroki
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Type Ii

scholarly journals Cutis laxa autosomal recessive type II or wrinkly skin syndrome?

2016 ◽  
Vol 7 (5) ◽  
pp. 440
Author(s):  
Pooja Arora ◽  
Payal Chakravarty ◽  
Deepshikha Khanna ◽  
Ruchika Gupta
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Type Ii ◽  
Recessive Type

scholarly journals Autosomal recessive cutis laxa Type II: Report of novel mutation in a child

2017 ◽  
Vol 8 (5) ◽  
pp. 352
Author(s):  
Rakesh Kumar ◽  
Sheetal Sharda ◽  
Vimlesh Soni ◽  
Kaniyappan Nambiyar
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutation ◽  
Cutis Laxa ◽  
Type Ii

Autosomal Recessive Type II Cutis Laxa

2004 ◽  
Vol 21 (2) ◽  
pp. 167-170 ◽  
Author(s):  
Arti Nanda ◽  
Jesuraj Lionel ◽  
Asma A. Al-Tawari ◽  
Jehoram Tei Anim
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Type Ii ◽  
Recessive Type

scholarly journals Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 788
Author(s):  
Hava Peretz ◽  
Ayala Lagziel ◽  
Florian Bittner ◽  
Mustafa Kabha ◽  
Meirav Shtauber-Naamati ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Heterologous Protein ◽  
Heterologous Protein Expression ◽  
Type I ◽  
Type Ii ◽  
Amino Acid Residues ◽  
Cysteine Desulfurase ◽  
Cofactor Binding ◽  
Pathogenic Variants ◽  
Expression Studies

Classical xanthinuria is a rare autosomal recessive metabolic disorder caused by variants in the XDH (type I) or MOCOS (type II) genes. Thirteen Israeli kindred (five Jewish and eight Arab) and two isolated cases from Germany were studied between the years 1997 and 2013. Four and a branch of a fifth of these families were previously described. Here, we reported the demographic, clinical, molecular and biochemical characterizations of the remaining cases. Seven out of 20 affected individuals (35%) presented with xanthinuria-related symptoms of varied severity. Among the 10 distinct variants identified, six were novel: c.449G>T (p.(Cys150Phe)), c.1434G>A (p.(Trp478*)), c.1871C>G (p.(Ser624*)) and c.913del (p.(Leu305fs*1)) in the XDH gene and c.1046C>T (p.(Thr349Ileu)) and c.1771C>T (p.(Pro591Ser)) in the MOCOS gene. Heterologous protein expression studies revealed that the p.Cys150Phe variant within the Fe/S-I cluster-binding site impairs XDH biogenesis, the p.Thr349Ileu variant in the NifS-like domain of MOCOS affects protein stability and cysteine desulfurase activity, while the p.Pro591Ser and a previously described p.Arg776Cys variant in the C-terminal domain affect Molybdenum cofactor binding. Based on the results of haplotype analyses and historical genealogy findings, the potential dispersion of the identified variants is discussed. As far as we are aware, this is the largest cohort of xanthinuria cases described so far, substantially expanding the repertoire of pathogenic variants, characterizing structurally and functionally essential amino acid residues in the XDH and MOCOS proteins and addressing the population genetic aspects of classical xanthinuria.

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

Autosomal Recessive Cutis Laxa Type 1

2009 ◽  
pp. 196-196
Author(s):  
Hubert Scharnagl ◽  
Winfried März ◽  
Markus Böhm ◽  
Thomas A. Luger ◽  
Federico Fracassi ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa
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