Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene

2020 ◽  
Author(s):  
Jennifer Piquer‐García ◽  
Ignacio Torres‐Navarro ◽  
Francisco Martínez‐Castellano ◽  
Montserrat Évole‐Buselli
Keyword(s):  
Autosomal Recessive ◽  
Biallelic Mutation ◽  
Dizygotic Twins ◽  
Woolly Hair

Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

2018 ◽  
Vol 45 (5) ◽  
pp. 613-617 ◽  
Author(s):  
Yukari Mizukami ◽  
Ryota Hayashi ◽  
Daisuke Tsuruta ◽  
Yutaka Shimomura ◽  
Koji Sugawara
Keyword(s):  
Case Report ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Woolly Hair

scholarly journals Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles

2016 ◽  
Vol 136 (6) ◽  
pp. 1097-1105 ◽  
Author(s):  
Nikolay V. Zernov ◽  
Mikhail Y. Skoblov ◽  
Andrey V. Marakhonov ◽  
Yutaka Shimomura ◽  
Tatyana A. Vasilyeva ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Hair Follicles ◽  
Woolly Hair

Compound heterozygous mutations in two distinct catalytic residues of theLIPHgene underlie autosomal recessive woolly hair in a Japanese family

2014 ◽  
Vol 41 (10) ◽  
pp. 937-938 ◽  
Author(s):  
Ryota Hayashi ◽  
Toshihide Akasaka ◽  
Masaaki Ito ◽  
Yutaka Shimomura
Keyword(s):  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Japanese Family ◽  
Catalytic Residues ◽  
Woolly Hair ◽  
Compound Heterozygous Mutations

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

2019 ◽  
Vol 159 (1) ◽  
pp. 19-25 ◽  
Author(s):  
Prabakaran Paulraj ◽  
Michelle Bosworth ◽  
Maria Longhurst ◽  
Callie Hornbuckle ◽  
Garrett Gotway ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Autosomal Recessive ◽  
Pediatric Population ◽  
Homozygous Deletion ◽  
Homozygous Mutation ◽  
Biallelic Mutation ◽  
Snp Microarray ◽  
Low Level

The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants often requires investigation within large and consanguineous families, and/or identifying rare biallelic variants in affected individuals. Furthermore, detection of homozygous gene-level copy number variants during first-line genomic microarray testing in the pediatric population is a rare finding. We describe a 6.7-year-old male patient with ID/DD and a novel homozygous deletion involving the FRY gene identified by genomic SNP microarray. This deletion was observed within a large region of homozygosity on the long arm of chromosome 13 and in a background of increased low-level (2.6%) autosomal homozygosity, consistent with a reported common ancestry in the family. FRY encodes a protein that regulates cell cytoskeletal dynamics, functions in chromosomal alignment in mitosis in vitro, and has been shown to function in the nervous system in vivo. Homozygous mutation of FRY has been previously reported in 2 consanguineous families from studies of autosomal recessive ID in Middle Eastern and Northern African populations. This report provides additional supportive evidence that deleterious biallelic mutation of FRY is associated with ID/DD and illustrates the utility of genomic SNP microarray detection of low-level homozygosity.

scholarly journals Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e93607 ◽  
Author(s):  
Doroteya Raykova ◽  
Joakim Klar ◽  
Aysha Azhar ◽  
Tahir Naeem Khan ◽  
Naveed Altaf Malik ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Woolly Hair ◽  
Recessive Transmission

A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

2010 ◽  
Vol 57 (2) ◽  
pp. 132-134 ◽  
Author(s):  
M. Kurban ◽  
S. Ghosn ◽  
O. Abbas ◽  
Y. Shimomura ◽  
A. Christiano
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Woolly Hair ◽  
P2ry5 Gene

scholarly journals 271 Mutation analysis of autosomal recessive woolly hair/ hypotrichosis in 72 Japanese patients

2020 ◽  
Vol 140 (7) ◽  
pp. S33
Author(s):  
R. Hayashi ◽  
A. Fujimoto ◽  
H. Fujikawa ◽  
R. Yokoyama ◽  
S. Shinkuma ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Japanese Patients ◽  
Woolly Hair

Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation

2016 ◽  
Vol 176 (1) ◽  
pp. 138-144 ◽  
Author(s):  
M. Kinoshita‐Ise ◽  
A. Kubo ◽  
T. Sasaki ◽  
N. Umegaki‐Arao ◽  
M. Amagai ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotypic Divergence ◽  
Quantitative Image ◽  
Woolly Hair ◽  
Image Analyses
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