Association of sequence variants in frizzled-6 with autosomal recessive nail dysplasia (NDNC-10) in Pashtun families

2019 ◽  
pp. 1
Author(s):  
Saadullah Khan ◽  
Anwar Khan ◽  
Malaika Hamid ◽  
Muhammad Nazif ◽  
Muhammad Abbas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Nail Dysplasia

scholarly journals A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Ceren Saygı ◽  
Yasemin Alanay ◽  
Uğur Sezerman ◽  
Aslı Yenenler ◽  
Nesrin Özören
Keyword(s):  
Autosomal Recessive ◽  
Founder Mutation ◽  
Turkish Family ◽  
Nail Dysplasia

scholarly journals Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment

2005 ◽  
Vol 84 (3) ◽  
pp. 226-231 ◽  
Author(s):  
Regie Lyn P. Santos ◽  
Hatem El-Shanti ◽  
Shaheen Sikandar ◽  
Kwanghyuk Lee ◽  
Attya Bhatti ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Recessive ◽  
Sequence Variants

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene

Neurogenetics ◽  
2006 ◽  
Vol 7 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Asma Gul ◽  
Muhammad Jawad Hassan ◽  
Saqib Mahmood ◽  
Wenje Chen ◽  
Safa Rahmani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Primary Microcephaly ◽  
Genetic Studies ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

A novel missense mutation in the geneFZD6underlies autosomal recessive nail dysplasia

2012 ◽  
Vol 168 (2) ◽  
pp. 422-425 ◽  
Author(s):  
S.I. Raza ◽  
N. Muhammad ◽  
S. Khan ◽  
W. Ahmad
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Nail Dysplasia

scholarly journals Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

2020 ◽  
Vol 117 (5) ◽  
pp. 2710-2716 ◽  
Author(s):  
Mor Hanany ◽  
Carlo Rivolta ◽  
Dror Sharon
Keyword(s):  
Healthy Subjects ◽  
Autosomal Recessive ◽  
Human Genetics ◽  
Sequence Variants ◽  
Retinal Diseases ◽  
Finnish Population ◽  
A Value ◽  
Mutational Burden ◽  
Available Information ◽  
Healthy Carriers

One of the major questions in human genetics is what percentage of individuals in the general population carry a disease-causing mutation. Based on publicly available information on genotypes from six main world populations, we created a database including data on 276,921 sequence variants, present within 187 genes associated with autosomal recessive (AR) inherited retinal diseases (IRDs). Assessment of these variants revealed that 10,044 were categorized as disease-causing mutations. We developed an algorithm to compute the gene-specific prevalence of disease, as well as the mutational burden in healthy subjects. We found that the genetic prevalence of AR-IRDs corresponds approximately to 1 case in 1,380 individuals, with 5.5 million people expected to be affected worldwide. In addition, we calculated that unaffected carriers of mutations are numerous, ranging from 1 in 2.26 individuals in Europeans to 1 in 3.50 individuals in the Finnish population. Our analysis indicates that about 2.7 billion people worldwide (36% of the population) are healthy carriers of at least one mutation that can cause AR-IRD, a value that is probably the highest across any group of Mendelian conditions in humans.

FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal‐recessive nail dysplasia

2012 ◽  
Vol 166 (5) ◽  
pp. 1088-1094 ◽  
Author(s):  
G. Naz ◽  
S.M. Pasternack ◽  
C. Perrin ◽  
M. Mattheisen ◽  
M. Refke ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Nail Dysplasia

First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port

2020 ◽  
Author(s):  
Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH ◽  
Ali NAJIZADEH ◽  
Saied HOSSEINI-ASL ◽  
Hooshang ZAIMKOHAN ◽  
Roshanak JAZAYERI
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Pathogenic Variant ◽  
Nail Dystrophy ◽  
First Report ◽  
Iranian Family ◽  
Northwestern Iran ◽  
Nail Dysplasia ◽  
First Time

Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation.

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families

2017 ◽  
Vol 58 (1) ◽  
pp. 24-28 ◽  
Author(s):  
Farooq Ahmad ◽  
Salma Sharif ◽  
Muhammad Furqan Ubaid ◽  
Khadim Shah ◽  
Muhammad Nasim Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Woolly Hair

scholarly journals Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

2011 ◽  
Vol 88 (6) ◽  
pp. 852-860 ◽  
Author(s):  
Anne-Sophie Fröjmark ◽  
Jens Schuster ◽  
Maria Sobol ◽  
Miriam Entesarian ◽  
Michaela B.C. Kilander ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Nail Dysplasia
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