| Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding. | Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.
Yu X, Zhao Q, Li X, Chen Y, Tian Y, Liu S, Xiong W, Huang P., Free PMC Article | 01/23/2021 |
| In 3 families with hearing impairment, whole exome sequencing revealed 3 novel variants in KCNQ4, LHFPL5 and COCH genes. The homozygous variant (c.34A>T, p.K12X) was identified in the LHFPL5 gene (DFNB67) which encodes a transmembrane protein. | Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
Mehregan H, Mohseni M, Akbari M, Jalalvand K, Arzhangi S, Nikzat N, Kahrizi K, Najmabadi H. | 07/25/2020 |
| A novel LHFPL5 mutation is identified in two members of a family with hereditary hearing loss. | LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.
Al-Amri AH, Al Saegh A, Al-Mamari W, El-Asrag ME, Al-Kindi MN, Al Khabouri M, Al Wardy N, Al Lamki K, Gabr A, Idris A, Inglehearn CF, Clapcote SJ, Ali M. | 03/14/2020 |
| Four patients from two different families from both Reunion Island and mainland France, were compound heterozygous: c.185delT p.(Phe62Serfs*23) and c.472C > T p.(Arg158Trp). The phenotype observed in our patients completely mimics the hurry-scurry (hscy) murine Tmhs knock-out model. The recurrent occurrence of same LHFPL5 variant in Reunion Island is attributed to common ancestor couple born in 1693. | High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S. | 02/15/2020 |
| two novel variants in LHFPL5, including a unique 3'-UTR splice site variant that is predicted to impact pre-mRNA splicing and regulation through an extended 3'-UTR. | Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM., Free PMC Article | 12/22/2018 |
| These findings provide a novel function of LHFPL2 and a novel genetic basis for distal reproductive tract development; they also emphasize the importance of an additional merging phase for proper reproductive tract development. | Novel function of LHFPL2 in female and male distal reproductive tract development.
Zhao F, Zhou J, Li R, Dudley EA, Ye X., Free PMC Article | 03/11/2017 |
| LHFPL5 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss. | Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
Komara M, John A, Suleiman J, Ali BR, Al-Gazali L. | 10/29/2016 |
| Five microsatellites in the 6p21.31e22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic hearing loss. | DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.
Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S. | 01/14/2012 |
| Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies | Unique transgenic animal model for hereditary hearing loss.
Cosetti M, Culang D, Kotla S, O'Brien P, Eberl DF, Hannan F., Free PMC Article | 01/21/2010 |
| These findings establish the importance of TMHS for normal sound transduction in humans. | Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S., Free PMC Article | 01/21/2010 |
| The authors present an overview of the LHFP gene family in mouse and humans | A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice.
Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR., Free PMC Article | 06/2/2006 |