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Table 1 (adapted fom Kosaki et al. 2017): ID, identity of the patient; CI, cochlear implant; LF, low frequency; NA, not applicable; NR, not recorded: POI, primary ovarian insufeciency; SNHL, sensorineural hearing loss; FSH, follicular stimulating hormone; LH, luteininsing hormone.

From: LARS2-Perrault syndrome: a new case report and literature review

IDFamily 1, II-1Family 1, II-2Family 1, II-3Family 2, probandII1II3 probandP2:II-1 probandP2:II-2P3:II-1 probandP3:II-2Patient III-3III-1 probandIII-5Patient 1 - probandPatient 2Patient 1Patient 2Patient 3Patient 4Index caseOur Patient
Variantsc.1565C>A (p.Thr522Asn)c.1565C>A (p.Thr522Asn)c.1565C>A (p.Thr522Asn)c.1077delT (p.IIe360PhefsTer15) c.1886C>T (p.Thr629Met)c.899C>T (p.Thr300Met) c.1912G>A (p.Glu638Lys)c.899C>T (p.Thr300Met) c.1912G>A (p.Glu638Lys)c.1565C>A (p.Thr522Asn)c.1565C>A (p.Thr522Asn)c.351G>C (p.Met117IIe) c.1565C>A (p.Thr522Asn)c.351G>C (p.Met117IIe) c.1565C>A (p.Thr522Asn)c.1358G>A (p.Arg453Gln) c.1886C>T (p.Thr639Met)c.1565C>A (p.Thr522Asn)c.1565C>A (p.Thr522Asn)c.880G>A, p.(Glu294Lys); c.1556C>T, p.(Thr519Met)c.880G>A, p.(Glu294Lys); c.1556C>T, p.(Thr519Met)c.462delT, p.(Lys155Asnfs*3); c.1120A>C, p.(Ile374Leu)c.1987C>T, p.(Arg663Trp); c.371A>T, p.(Asn124Ile)c.516G>T, p.(Arg172Ser); c.1028C>T, p.(Thr343Met)c.683G>A, p.(Arg228His); c.880G>A, p.(Glu294Lys)c.457A>C, p.(Asn153His)c.457A>C, p.(Asn153His); c.1565C>A, p.(Thr522Asn)
ReferencesPierce et al. (2013) [8]Pierce et al. (2013) [8]Pierce et al. (2013) [8]Pierce et al. (2013) [8]Solda et al. (2016) [14]Solda et al. (2016) [14]Demain et al. (2017) [10]Demain et al. (2017) [10]Demain et al. (2017) [10]Demain et al. (2017) [10]Lerat et al. (2016) [16]Zerkaoui et al. 2017 [5]Zerkaoui et al. 2017 [5]Kosaki et al. (2018) [7]Kosaki et al. (2018) [7]Van der Knaap et al. (2019) [15]Van der Knaap et al. (2019) [15]Van der Knaap et al. (2019) [15]Van der Knaap et al. (2019) [15]Al-Jaroudi et al. (2019) [9]our case
EthnicityPalestinianPalestinianPalestinianSlovenianItalianItalianArgentinianArgentinianWhite BritishWhite BritishSri LankanMarrocanMarrocanNRNRNRNRNRNRSaudi arabiaFrance
ConsanguinityYesYesYesNoNoNoNoNoNoNoNoYesYesNoNoNRNRNRNRYesNo
SexMaleFemaleMaleFemaleMaleFemaleFemaleMaleFemaleMaleFemaleFemaleMaleFemaleFemaleFemaleMaleMaleFemaleFemaleFemale
Age at last assessment (years)17171330403127262526NR231617113237845278
Sensorineural hearing loss                     
Age at diagnosis (years)3-53-53-53-5congenital-8262.52.5<3231618 m.o.congenitalcongenitalcongenitalcongenitalcongenitalcongenital4
Degree of hearing lossSevere to profoundRight : severe at low frequencies, moderate at high frequencies. Left: moderate at low frequencies, mild at high frequenciesSevere to moderate at low frequencies, moderate to mild at high frequeniesSevereProfoundProfoundModerateMild/ moderateSevere/ profoundSevere/ profoundModerateModerate/ profoundModerate/ profoundNRNRProfoundNRProfoundNRProfoundSevere
NotesBilateral LF SNHLLF SNHLBilateral LF SNHLNoneProgressive SNHLProgressive SNHLLFLFLFLFNot progressiveProgressiveProgressive-------Bilateral SNHL
InterventionNRNo hearing aidNRNRBilatera CIBilatera CICINRCINRNRHearing aidHearing aidNRNRNRHearing aidUnilateral CIUnilateral CINRUnilateral CI
Pelvic USNASmall uterus, ovaries not visualizedNANRNABicornate uterus, hypoplastic left ovary, right ovary not visualisedSmall uterus and ovariesNASmall uterus and ovariesNANRSmall uterus, ovaries not visualizedNAHypotrophic uterus, ovaries not visualizedHypotrophic uterus, ovaries not visualized NANAStreak ovariesHypoplastic uterus and streak ovariesLeft ovary not well visualised
MenarcheNANoNAYesNAYesNoNAYesNANoNRNANoNoYesNANAYes- 16NoNo
POI- age if menarche achievedNAYesNAYes-19NAYes-28NANAYesNANANANANANAYes- 29--Yes- soon after menarche-NA
FSH (IU/I)NR76.9NR101NR11899.6 (2.3-29)NR74 (<30)3.1 (1-11)NR51NR46.90 IU/L22.06 IU/LNRNRNRNR88.4 IU/LNR
LH (IU/I)NR30.3NRNRNR45.448.0 (1.7-52)NR63 (<30)3.9 (1-11)NR16.29NR9.95 IU/L3.04 IU/LincreasedNRNRincreased31.4 IU/LNR
EstradiolNANRNANRNANR7.04 (10-388) pg/mlNA91 (>180) pmol/lNANRNRNA<10 pg/mL<10 pg/mLdecreasedNRNRdecreased213 pmol/ LNR
Neurological featuresNoNoNoNoNoNoNoNoNoNoNoNoNoDevelopmental delay; behavioural problems; ataxic gaitLearning difficultiesCerebellar ataxia; spasticity; swallowing difficultiesHypotonia at birth; autistic behaviour; hyperactivity; aggression; atypical seizures; extrapyramidal dysfunctionHypotonia at birth; hyperkinesia; self-mutilation; temper tantrums; aggression; mild pyramidal signs with brisk reflexes but no ataxia.Pyramidal dysfunction; axial ataxiaNoNo
Additional featuresNoNoNoNoNoNoNoNoMild facial dysmorphia, hemidystrophyHypopadias, mild facial dysmorphia, normal testosteroneCleft palateMarfanoid habitusMarfanoid habitusObesity; strabismus; osteoporosis; fatty liver; scoliosis  Macrocephaly; inguinal hernia; MRI showed early-onset vascular abnormalities MRI showed early-onset vascular abnormalitiesMarfanoid habitus; tarlov cysts; degenerative changes of the vertebral columnAstigmatism; 3 café-au-lait macules