PMID- 28356705
OWN - NLM
STAT- MEDLINE
DCOM- 20180209
LR  - 20181113
IS  - 1090-0535 (Electronic)
IS  - 1090-0535 (Linking)
VI  - 23
DP  - 2017
TI  - Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous 
      family.
PG  - 131-139
AB  - PURPOSE: To report the clinical and genetic findings of one family with autosomal 
      recessive cone dystrophy (CD) and to identify the causative mutation. METHODS: An 
      institutional study of three family members from two generations. The clinical 
      examination included best-corrected Snellen visual acuity measurement, 
      fundoscopy, the Farnsworth D-15 color vision test, a full-field electroretinogram 
      (ERG) that incorporated the International Society for Clinical Electrophysiology 
      of Vision standards and methodology, fundus autofluorescence (FAF) and infrared 
      (IR), and spectral-domain optical coherence tomography (SD-OCT). Genetic findings 
      were achieved with DNA analysis using whole exome sequencing (WES) and Sanger 
      sequencing. RESULTS: The proband, a 9-year-old boy, presented with a condition 
      that appeared to be congenital and stationary. The clinical presentation 
      initially reflected incomplete congenital stationary night blindness (icCSNB) 
      because of myopia, a decrease in visual acuity, abnormal oscillatory potentials, 
      and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there 
      were no clear electronegative responses. However, no disease-causing mutations in 
      the genes underlying icCSNB were identified. Following WES analysis of family 
      members, a homozygous splice-site mutation in intron 3 of TTLL5 
      (c.182-3_182-1delinsAA) was found cosegregating within the phenotype in the 
      family. CONCLUSIONS: The distinction between icCSNB and CD phenotypes is not 
      always straightforward in young patients. The patient was quite young, which most 
      likely explains why the progression of the CD was not obvious. WES analysis 
      provided prompt diagnosis for this family; thus, the use of this technique to 
      refine the diagnosis is highlighted in this study.
FAU - Dias, Miguel de Sousa
AU  - Dias MS
AD  - Sorbonne Universites, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de 
      la Vision, 17 rue Moreau, Paris, France.
FAU - Hamel, Christian P
AU  - Hamel CP
AD  - INSERM U 1051, Institut des Neurosciences de Montpellier, Hopital Saint-Eloi, 
      Montpellier, France; Affections Sensorielles Genetiques, CHU de Montpellier, 191 
      Avenue du Doyen Gaston Giraud, Montpellier, France; Universite Montpellier, 163 
      Avenue Auguste Broussonnet, Montpellier, France.
FAU - Meunier, Isabelle
AU  - Meunier I
AD  - INSERM U 1051, Institut des Neurosciences de Montpellier, Hopital Saint-Eloi, 
      Montpellier, France; Affections Sensorielles Genetiques, CHU de Montpellier, 191 
      Avenue du Doyen Gaston Giraud, Montpellier, France; Universite Montpellier, 163 
      Avenue Auguste Broussonnet, Montpellier, France.
FAU - Varin, Juliette
AU  - Varin J
AD  - Sorbonne Universites, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de 
      la Vision, 17 rue Moreau, Paris, France.
FAU - Blanchard, Steven
AU  - Blanchard S
AD  - IntegraGen SA, Genopole CAMPUS 1 bat, G8, EVRY, Paris, France.
FAU - Boyard, Fiona
AU  - Boyard F
AD  - Sorbonne Universites, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de 
      la Vision, 17 rue Moreau, Paris, France.
FAU - Sahel, Jose-Alain
AU  - Sahel JA
AD  - Sorbonne Universites, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de 
      la Vision, 17 rue Moreau, Paris, France; CHNO des Quinze-Vingts, DHU Sight 
      Restore, INSERM-DHOS CIC1423, 28 rue de Charenton, Paris, France; Institute of 
      Ophthalmology, University College of London, London EC1V 9EL, UK; Fondation 
      Ophtalmologique Adolphe de Rothschild, Paris, France; Academie des Sciences, 
      Institut de France, Paris, France; Department of Ophthalmology, The University of 
      Pittsburghschool of Medicine, Pittsburg, PA.
FAU - Zeitz, Christina
AU  - Zeitz C
AD  - Sorbonne Universites, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de 
      la Vision, 17 rue Moreau, Paris, France.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170318
PL  - United States
TA  - Mol Vis
JT  - Molecular vision
JID - 9605351
RN  - 0 (Carrier Proteins)
RN  - 0 (RNA Splice Sites)
RN  - 0 (TTLL5 protein, human)
SB  - IM
MH  - Carrier Proteins/*genetics
MH  - Child
MH  - Chromosome Segregation/genetics
MH  - *Consanguinity
MH  - Family
MH  - Female
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - RNA Splice Sites/*genetics
MH  - Retinal Dystrophies/*genetics
PMC - PMC5360453
EDAT- 2017/03/31 06:00
MHDA- 2018/02/10 06:00
PMCR- 2017/01/01
CRDT- 2017/03/31 06:00
PHST- 2016/10/31 00:00 [received]
PHST- 2017/03/16 00:00 [accepted]
PHST- 2017/03/31 06:00 [entrez]
PHST- 2017/03/31 06:00 [pubmed]
PHST- 2018/02/10 06:00 [medline]
PHST- 2017/01/01 00:00 [pmc-release]
AID - 11 [pii]
PST - epublish
SO  - Mol Vis. 2017 Mar 18;23:131-139. eCollection 2017.