Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis

@article{Zhang2012ExomeSI,
  title={Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis},
  author={Xin Zhang and Bi-rong Guo and Li-Qiong Cai and Tao Jiang and Liangdan Sun and Yong Cui and Jingchu Hu and Jun Zhu and Gang Chen and Xian-fa Tang and Guangqing Sun and Huayang Tang and Yuan Liu and Min Li and Qibin Li and Hui Cheng and M. Gao and Ping Li and Xu Yang and Xianbo Zuo and Xiao-dong Zheng and Peiguang Wang and Jian Wang and Jun Wang and Jian-jun Liu and Sen Yang and Ying Rui Li and Xuejun Zhang},
  journal={Journal of Medical Genetics},
  year={2012},
  volume={49},
  pages={727 - 730}
}
Background Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.1–1q21.3 region responsible for MUHH has been identified. Methods Exome sequencing was performed on two affected subjects, who had normal vertex hair and modest alopecia, and one unaffected individual from a four-generation MUHH family of… 
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis
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Two unrelated Chinese multigenerational families with MUHH are investigated and two previously reported mutations, c.1A >T (p.Met1?) and c.104A>G (p*35Wext1263*) are identified, both of which cosegregated with the disease phenotype in the two families.
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A 12-year-old male child is reported with characteristic clinical features suggestive of hereditary hypotrichosis of Marie-Unna type, a rare autosomal dominant disorder that has a distinctive type of hair loss pattern that varies with child's age.
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References

SHOWING 1-10 OF 27 REFERENCES
Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3.
TLDR
To map and determine whether MUHH is a genetically heterogeneous disorder and identify the disease gene locus in a four-generation Chinese family with MUHH, a genome-wide scan in this family was performed.
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity
TLDR
Genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p revealed significant exclusion of this locus indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
TLDR
Analysis of expressed sequences and positional cloning of the MU locus is underway, and screening of all exons of the hr gene amplified from the genomic DNA of an affected individual revealed no mutations.
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
TLDR
The results establish the link between MUHH and U2HR, show that fine-tuning of HR protein levels is important in control of hair growth, and identify a potential mechanism for preventing hair loss or promoting hair removal.
Exome sequencing identifies the cause of a Mendelian disorder
TLDR
Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
Using next‐generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities
TLDR
The exomes of four members of a family presenting with spondylo‐epiphyseal dysplasia and retinitis pigmentosa were sequenced and a six‐base‐pair deletion in GNPTG was identified, the gene implicated in mucolipidosis type IIIγ, demonstrating the clinical utility of next‐generation sequencing to diagnose rare genetic diseases.
Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
TLDR
This study implies that exome and genome sequencing will certainly reveal additional rare variation causative for even well-studied classical Mendelian diseases, while also revealing variants that might play a role in complex diseases.
Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
TLDR
Exome capture was carried out using Agilent SureSelect Human All Exon Kit guided by the manufacturer’s protocols and paired-end sequencing was conducted according to Declaration of Helsinki principles.
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
TLDR
An exome-sequencing strategy is used and an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome are identified, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss.
Targeted capture and massively parallel sequencing of 12 human exomes
TLDR
It is shown that candidate genes for Mendelian disorders can be identified by exome sequencing of a small number of unrelated, affected individuals and may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of nonsynonymous variants by predicted functional impact.
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