Not a new variant of the autosomal recessive multiple pterygium syndrome but the Bartsocas-Papas syndrome

2001 ◽  
Vol 101 (1) ◽  
pp. 78-78 ◽  
Author(s):  
Ahmad S. Teebi
Keyword(s):  
Autosomal Recessive ◽  
New Variant ◽  
Multiple Pterygium Syndrome

A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia: Characterization of the defect and response to PCSK9 inhibition

2019 ◽  
Vol 284 ◽  
pp. 223-229 ◽  
Author(s):  
Carmen Rodríguez-Jiménez ◽  
Diego Gómez-Coronado ◽  
Manuel Frías Vargas ◽  
Francisca Cerrato ◽  
Carlos Lahoz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
New Variant ◽  
Autosomal Recessive Hypercholesterolemia ◽  
Pcsk9 Inhibition

scholarly journals Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

2015 ◽  
Author(s):  
Jessica X Chong ◽  
Lindsay C Burrage ◽  
Anita E Beck ◽  
Colby T Marvin ◽  
Margaret J McMillin ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Basis ◽  
Autosomal Dominant ◽  
Skeletal Development ◽  
Autosomal Recessive Disorder ◽  
Tail Domain ◽  
Distal Arthrogryposis ◽  
Developmental Mechanism ◽  
Physical Findings ◽  
Multiple Pterygium Syndrome

Multiple pterygium syndromes (MPS) are a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis and congenital contractures of the limbs. MPS typically segregates as an autosomal recessive disorder but rare instances of autosomal dominant transmission have been reported. While several mutations causing recessive MPS have been identified, the genetic basis of dominant MPS remains unknown. We identified four families with dominantly transmitted MPS characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis. Exome sequencing identified predicted protein-altering mutations in embryonic myosin heavy chain (MYH3) in three families. MYH3 mutations underlie distal arthrogryposis types 1, 2A and 2B, but all mutations reported to date occur in the head and neck domains. In contrast, two of the mutations found to cause MPS occurred in the tail domain. The phenotypic overlap among persons with MPS coupled with physical findings distinct from other conditions caused by mutations in MYH3, suggests that the developmental mechanism underlying MPS differs from other conditions and / or that certain functions of embryonic myosin may be perturbed by disruption of specific residues / domains. Moreover, the vertebral fusions in persons with MPS coupled with evidence of MYH3 expression in bone suggests that embryonic myosin plays a previously unknown role in skeletal development.

scholarly journals Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Danilo Giorgi Abranches de Andrade ◽  
Roberta Martins Basso ◽  
Angelo José Magro ◽  
Renée Laufer-Amorim ◽  
Alexandre Secorun Borges ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Amino Acid ◽  
Amino Acid Substitution ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Dwarf Phenotype ◽  
Horse Genome ◽  
Complex Interactions ◽  
New Variant ◽  
Exon 11

Abstract Chondrodysplastic dwarfism in Miniature horses is an autosomal recessive disorder previously associated with four mutations (D1, D2, D3*, and D4) in the aggrecan (ACAN) gene. The aim of this study was to identify additional variants in the candidate ACAN gene associated with chondrodysplastic dwarfism in Miniature horses. Fifteen dwarf Miniature horses were found to possess only one of the dwarfism-causing variants, and two possessed none of the variants. The ACAN exons (EquCab3.0) of seven dwarf Miniature horses were sequenced. A missense SNP in coding exon 11 (g.95271115A > T, c.6465A > T—RefSeq XM_005602799.2), which resulted in the amino acid substitution p.Leu2155Phe (RefSeq XP_005602856.2), was initially associated with the dwarf phenotype. The variant was tested and found present in 14 dwarf foals as well as one parent of each, and both parents of a dwarf possessing two copies. Genetic testing of 347 phenotypically normal Miniature horses demonstrated that none had more than one of the dwarf alleles or c.6465A > T. However, a study of large breeds revealed the presence of c.6465A > T, which was present in homozygosis in two Mangalarga Marchador horses. We suggest that c.6465A > T as a marker of disequilibrium or complex interactions in the Miniature horse genome could contribute to the associated dwarfism.

scholarly journals Novel variant р.Cys3024Tyr and frequent mutations in the gene in patients with autosomal recessive polycystic kidney disease from Russian Federation

2020 ◽  
pp. 3-7
Author(s):  
Н.Н. Вассерман ◽  
А.В. Поляков
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Hepatic Disease ◽  
Polycystic Kidney ◽  
Reading Frame ◽  
New Variant ◽  
Novel Variant ◽  
Frequent Mutations

Аутосомно-рецессивная поликистозная болезнь почек (АРПП) - форма поликистозной болезни почек с ранним началом. Она явля- ется важной причиной заболеваемости и смертности детей, связанных с изменениями почек и печени. Ген PKHD1 , мутации в кото- ром приводят к развитию заболевания, локализован на хромосоме 6р21.1-р12. С самого протяженного транскрипта, состоящего из 67 экзонов, синтезируется белок полидуктин. Мутации располагаются во всем гене без признаков кластеризации. Поэтому поиск мутаций является трудоемким, дорогостоящим и требует много времени. В гене PKHD1 идентифицирован новый вариант c.9071G>A (р.Cys3024Tyr) в 14 семьях на 16 хромосомах, что составляет 12,7% найденных мутаций. Данный вариант не встретился на 1008 хро- мосомах контрольной выборки. Частыми мутациями в выборке больных с АРПП являются: c.107C>T (р.Thr36Met), встретившаяся у 53% семей с мутациями на 41% хромосом; мутации c.1486C>T (р.Arg496Ter) и c.9524A>G (р.Asn3175Ser) выявлены в 10% семей каждая. Поиск мутаций в гене PKHD1 важен для подтверждения диагноза молекулярно-генетическими методами, а также для проведения медико-генетического консультирования в семьях с последующей пренатальной диагностикой, особенно в семьях, в которых недо- ступен материал больного ребенка. Autosomal recessive polycystic kidney disease (ARPKD, Polycystic kidney disease 4 with or without hepatic disease, MIM 263200) is a severe genetic disorder with variable clinical spectrum. It is an important cause of renal-related and liver-related morbidity and mortality. ARPKD is caused by mutations in the PKHD1 gene which was mapped to chromosome 6p21-p12. A 67-exon transcript encodes one of the lon- gest continuous open reading frame. Protein polyductin is synthesized from this transcript. Mutations were found to be scattered through- out the gene without evidence of clustering. Searching for mutations is time-consuming and costly. We identified new variant c.9071G>A (р.Cys3024Tyr) in 14 families on 16 chromosomes which makes 12.7% mutations. This variant did not found on 1008 control chromosomes. Mutation c.107C>T (р.Thr36Met) occurs in 53% families with mutation on 41% chromosomes. Mutations c.1486C>T (р.Arg496Ter) and c.9524A>G (р.Asn3175Ser) occur in 10% families each. Mutation analysis in PKHD1 gene is very important for confirming the ARPKD diag- nosis and genetic counseling with following prenatal diagnosis.

A New Variant of Autosomal Recessive Exfoliative Ichthyosis

2002 ◽  
Vol 19 (5) ◽  
pp. 382-387 ◽  
Author(s):  
A. Zvulunov ◽  
E. Cagnano ◽  
L. Kachko ◽  
Z. Shorer ◽  
K. Elbedour ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
New Variant
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