Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation inPORgene: Antley-bixler syndrome phenotype in three sibling fetuses

Maria Tzetis; Anastasia Konstantinidou; Christalena Sofocleous; Konstantina Kosma; Anastasios Mitrakos; Christina Tzannatos; Sofia Kitsiou-Tzeli

doi:10.1002/bdra.23492

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation inPORgene: Antley-bixler syndrome phenotype in three sibling fetuses

Birth Defects Research Part A Clinical and Molecular Teratology ◽

10.1002/bdra.23492 ◽

2016 ◽

Vol 106 (7) ◽

pp. 536-541 ◽

Cited By ~ 4

Author(s):

Maria Tzetis ◽

Anastasia Konstantinidou ◽

Christalena Sofocleous ◽

Konstantina Kosma ◽

Anastasios Mitrakos ◽

...

Keyword(s):

Missense Mutation ◽

Compound Heterozygosity ◽

Submicroscopic Deletion

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Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of theuroporphyrinogen III cosynthasegene causes a severe phenotype of congenital erythropoietic porphyria

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/j.1468-3083.2008.02905.x ◽

2009 ◽

Vol 23 (4) ◽

pp. 470-471 ◽

Cited By ~ 2

Author(s):

T-W Kang ◽

S-W Oh ◽

M-R Kim ◽

JS Lee ◽

S-C Kim

Keyword(s):

Missense Mutation ◽

Premature Termination ◽

Premature Termination Codon ◽

Termination Codon ◽

Compound Heterozygosity ◽

Severe Phenotype ◽

Congenital Erythropoietic Porphyria ◽

Exon 10

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Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation

American Journal of Hematology ◽

10.1002/ajh.20803 ◽

2007 ◽

Vol 82 (5) ◽

pp. 376-380 ◽

Cited By ~ 1

Author(s):

G. Castaman ◽

K. Bertoncello ◽

M. Bernardi ◽

J.C.J. Eikenboom ◽

U. Budde ◽

...

Keyword(s):

Missense Mutation ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Von Willebrand Disease ◽

Compound Heterozygosity ◽

Definite Evidence ◽

Von Willebrand

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Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency

Haematologica ◽

10.3324/haematol.2018.214692 ◽

2019 ◽

Vol 104 (9) ◽

pp. e428-e431 ◽

Cited By ~ 4

Author(s):

Shruti Bagla ◽

Kanta Bhambhani ◽

Manisha Gadgeel ◽

Steven Buck ◽

Jian-Ping Jin ◽

...

Keyword(s):

Missense Mutation ◽

Pyruvate Kinase ◽

Compound Heterozygosity ◽

Pyruvate Kinase Deficiency ◽

Intronic Polymorphism

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Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family

Annals of Neurology ◽

10.1002/ana.1076 ◽

2001 ◽

Vol 50 (1) ◽

pp. 108-112 ◽

Cited By ~ 21

Author(s):

Manuel Comabella ◽

John S. Waye ◽

Nuria Raguer ◽

Barry Eng ◽

Carmen Domínguez ◽

...

Keyword(s):

Peripheral Neuropathy ◽

Missense Mutation ◽

Metachromatic Leukodystrophy ◽

Late Onset ◽

Compound Heterozygosity ◽

Spanish Family

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A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene

Thrombosis Research ◽

10.1016/s0049-3848(02)00007-5 ◽

2002 ◽

Vol 105 (2) ◽

pp. 135-138 ◽

Cited By ~ 8

Author(s):

Giancarlo Castaman ◽

Elisabetta Novella ◽

Evelina Castiglia ◽

Jeroen C.J Eikenboom ◽

Francesco Rodeghiero

Keyword(s):

Missense Mutation ◽

Von Willebrand Factor ◽

Splice Site ◽

Splice Site Mutation ◽

Von Willebrand Disease ◽

Compound Heterozygosity ◽

Site Mutation ◽

Factor Gene ◽

Von Willebrand ◽

Willebrand Factor

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Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia

Human Mutation ◽

10.1002/(sici)1098-1004(1996)8:4<381::aid-humu16>3.0.co;2-z ◽

1996 ◽

Vol 8 (4) ◽

pp. 381-383 ◽

Cited By ~ 3

Author(s):

Heiko Wiebusch ◽

Harald Funke ◽

Taco Bruin ◽

Hans Bucher ◽

Arnold von Eckardstein ◽

...

Keyword(s):

Missense Mutation ◽

Lipoprotein Lipase ◽

Compound Heterozygosity ◽

Terminal Domain

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Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism

Human Mutation ◽

10.1002/humu.21227 ◽

2010 ◽

Vol 31 (4) ◽

pp. E1304-E1319 ◽

Cited By ~ 49

Author(s):

Candice Hoste ◽

Sabrina Rigutto ◽

Guy Van Vliet ◽

Françoise Miot ◽

Xavier De Deken

Keyword(s):

Missense Mutation ◽

Congenital Hypothyroidism ◽

Compound Heterozygosity ◽

Partial Deletion ◽

Catalytic Core ◽

Transient Congenital Hypothyroidism

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Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome

American Journal of Hematology ◽

10.1002/ajh.20236 ◽

2004 ◽

Vol 78 (1) ◽

pp. 41-48 ◽

Cited By ~ 11

Author(s):

Jeanne Drouin ◽

Nancy L. Carson ◽

Odette Laneuville

Keyword(s):

Missense Mutation ◽

Compound Heterozygosity ◽

Nucleotide Deletion ◽

Bernard Soulier Syndrome

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Factor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2

Blood Coagulation & Fibrinolysis ◽

10.1097/mbc.0000000000000265 ◽

2015 ◽

Vol 26 (3) ◽

pp. 352-353

Author(s):

Toby Andrew Eyre ◽

Patricia Bignell ◽

David Keeling

Keyword(s):

Missense Mutation ◽

Compound Heterozygosity ◽

Factor X ◽

Exon 2 ◽

Factor X Deficiency

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Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.87.2.8209 ◽

2002 ◽

Vol 87 (2) ◽

pp. 841-846 ◽

Cited By ~ 27

Author(s):

Alessandra Meloni ◽

Roberto Perniola ◽

Valeria Faà ◽

Enrico Corvaglia ◽

Antonio Cao ◽

...

Keyword(s):

Missense Mutation ◽

Amino Acid Change ◽

Frameshift Mutation ◽

Southern Italy ◽

Compound Heterozygosity ◽

Regulator Gene ◽

Restricted Area ◽

Molecular Defects ◽

Aire Gene ◽

Autoimmune Polyendocrinopathy

In this study, we have carried out molecular analysis of the AIRE (autoimmune regulator) gene in 11 patients (from 8 families) affected by autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, originating from a restricted area of Southern Italy (the Salento peninsula in Puglia). Of the 16 mutant AIRE alleles from the 8 probands studied, 12 carried a missense mutation (W78R in 9, P539L in 2, and P252L in 1), 2 carried the Q358X nonsense mutation, and 2 carried the 1058delT frameshift mutation. All these mutations except the 1058delT are novel. Each of the detected mutations either predicts a premature termination of the protein or results in a nonconservative amino acid change, most likely adversely affecting the function of the protein. The W78R missense mutation is relatively common in these patients, having been detected (in homozygosity or compound heterozygosity) in 6 of the 8 probands tested, indicating the presence of a founder effect. The results of this study contribute to the delineation of the molecular pathology of the AIRE gene and enhance our ability to perform a molecular diagnosis in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

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